DOWN ’S SYNDROME

(MONGOLISM)

A REFERENCE BIBLIOGRAPHY

US. DEPARTMENT OF HEALTH, EDUCATION, AND WELFARE

Public Health Serviu- National Inslilutcs of Health

 

 

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DOWN’S SYNDROME

\ (MONGOLISM) -)

A REFERENCE BIBLIOGRAPHY
by

Rudolf F Eollman, M.D., Head, Section on Obstetrics,
Perinatal Research Branch, National Institute of

Neurological Diseases and Stroke, National Institutes
of Health, Bethesda, Maryland 20014

US. Department of Health, Education, and Welfare
Public Health Service
National Institutes of Health
1969

 

For sale by the Superintendent of Documents, U.S. Government Printing Office,
Washington, I).C., 20402 * Price 45 cents V

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Contents

Page
Acknowledgment ____________________________________________ iv

Classic Papers on Down’s Syndrome

1. J. Langdon H. Down, Observations on an Ethnic Classifi- 2
cation of Idiots (1866) _______________________________

2. E. Seguin, Idiocy: and its Treatment by the Physiological 5
Method (1866) _____________________________________

3. 1’. J. Waardenburg, Das menschliche Auge und seine 8
Erbanlagen (1932) ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

4. J. Lejeune et 31., Les chromosomes humains en culture 10
de tissus (1959) ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
5 J. Lejeune et al., Etude des chromosomes somatiques de 13

neuf enfants mongoliens (1959) ___________ , _. _ ,, , , ,

6. “Mongolism” (1961),,U. ......... W. 17
Preface __________________________________________________ 19
Bibliography ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,, 21
Index _____________________________________________________ 86

iii

9.90

Acknowledgment

Most of the references have been compiled and transcribed onto mar-
ginal punch cards by Mrs. Emmi Vollman. Mrs. Olga Williams has given
careful editorial assistance to the manuscript. All references have been
verified against the original publications through the continuous co-
operation of the Reference Section of the NIH Library and the National
Library of Medicine. It is a great pleasure to thank all collaborators for
their careful work.

RUDOLF I“. VOLLMAN, M.D.,
Head, Section on Obstetrics,
Perinatal Research Branch,
National Institute of

Neurological Diseases and Stroke,
National Institutes of Health,
Bethesda, Md. 20014, U.S.A.

iv

CLASSIC PAPERS ON DOWN’S
SYNDROME

With a few, well-chosen words J. Langdon H. Down, in 1866, described
the clinical picture and the diagnostic criteria of the syndrome that now
carries his name. He saw that the condition was “always congenital”
and that the patient’s “life expectancy is far below the average.” He,
therefore, discounted any possible etiologic association with birthtrauma,
accident, medication, malnutrition or “maternal imagination.” But he
was caught in the philosophical speculations of his time on the descendence
of the human races when he postulated that mongolism is the “result of
degeneracy among mankind.”

In the same year E. Seguin differentiated “furfuracious cretinism”
from endemic cretinism, a classification which he had already presented
in an earlier publication (1846). It may be assumed that “furfuracious
cretinism” is identical with Down’s syndrome.

P. J. Waardenburg suggested in a study on the genetics of the human
eye that mongolism could be due to a “chromosomal aberration”—“a
chromosomal deficiency through non-disjunction” or a “translocation,”
a hypothesis which was verified 27 years later through J. Lejeune’s
karyotype studies.

London Hospital. Clinical Lectures and Reports 3: 259—62, 1866.

OBSERVATIONS ON AN ETHNIC CLASSIFICATION
OF IDIOTS

By J. Langdon H. Down, M.D., Lond.

“Those who have given any attention to congenital mental lesions,
must have been frequently puzzled how to arrange, in any satisfactory
way, the different classes of this defect which may have come under
their observation. Nor will the difficulty be lessened by an appeal to
what has been written on the subject. The systems of classification are
generally so vague and artificial, that, not only do they assist but feebly,
in any mental arrangement of the phenomena which are presented, but
they completely fail in exerting any practical influence on the subject.

The medical practitioner who may be consulted in any given case,
has, perhaps in a very early condition of the child’s life, to give an opinion
on points of vital importance as to the present condition and probable
future of the little one. Moreover, he may be pressed as to the question,
whether the supposed defect dates from any cause subsequent to the
birth or not. Has the nurse dosed the child with opium? Has the little
one met with any accident? Has the instrumental interference which
maternal safety demanded, been the cause of what seems to the anxious
parents, a vacant future? Can it be that when away from the family
attendant the calomel powders were judiciously prescribed? Can, in fact,
the strange anomalies which the child presents, be attributed to the nu-
merous causes which maternal solicitude conjures to the imagination, in
order to account for a condition, for which any cause is sought, rather
than hereditary taint or parental influence. Will the systems of classifica-
tion, either all together, or any one of them, assist the medical adviser in
the opinion he is to present, or the suggestions which he is to tender to
the anxious parent? I think that they will entirely fail him in the matter,
and that he will have in many cases to make a guarded diagnosis and
prognosis, so guarded, in fact, as to be almost valueless, or to venture
an authoritative assertion which the future may perhaps confirm.

I have for some time had my attention directed to the possibility of
making a classification of the feeble-minded, by arranging them around
various ethnic standards, —in other words, framing a natural system to
supplement the information to be derived by an inquiry into the history
of the case.

I have been able to find among the large number of idiots and imbeciles
which come under my observation, both at Earlswood and the out-patient
department of the Hospital, that a considerable portion can be fairly
referred to one of the great divisions of the human family other than the
class from which they have sprung. Of course, there are numerous repre-
sentatives of the great Caucasian family. Several well-marked examples

2

of the Ethiopian variety have come under my notice, presenting the
characteristic malar bones, the prominent eyes, the puffy lips, and re-
treating chin. The woolly hair has also been present, although not always
black, nor has the skin acquired pigmentary deposit. They have been
specimens of white negrocs, although of European descent.

Some arrange themselves around the Malay variety, and present in
their soft, black, curly hair, their prominent upper jaws and capacious
mouths, types of the family which people the South Sea Islands.

Nor have there been wanting the analogues of the people who with
shortened foreheads, prominent cheeks, deep-set eyes, and slightly apish
nose, originally inhabited the American Continent.

The great Mongolian family has numerous representatives, and it is to
this division, I wish, in this paper, to call special attention. A very large_ 5
number of congenital idiots are typical Mongols. So marked is this, that i
when placed side by side, it is difficult to believe that the specimens
compared are not children of the same parents. The number of idiots who
arrange themselves around the Mongolian type is so great, and they
present such a close resemblance to one another in mental power, that
I shall describe an idiot member of this racial division, selected from the
large number that have fallen under my observation.

The hair is not black, as in the real Mongol, but of a brownish colour,
straight and scanty. The face is flat and broad, and destitute of prom-
inence. The cheeks are roundish, and extended laterally. The eyes are
obliquely placed, and the internal canthi more than normally distant
from one another. The palpebral fissure is very narrow. The forehead is
wrinkled transversely from the constant assistance which the levatores
palpebrarum derive from the occipitofrontalis muscle in the opening of
the eyes. The lips are large and thick with transverse fissures. The tongue
is long, thick, and is much roughened. The nose is small. The skin has a
slight dirty yellowish tinge, and is deficient in elasticity, giving the ap-
pearance of being too large for the body.

The boy’s aspect is such that it is difficult to realize that he is the child
of Europeans, but so frequently are these characters presented, that there
can be no doubt that these ethnic features are the result of degeneration.

The Mongolian type of idiocy occurs in more than ten per cent of the
cases which are presented to me. They are always congenital idiots, and
never result from accidents after uterine life. They are, for the most part,
instances of degeneracy arising from tuberculosis in the parents. They are
cases which very much repay judicious treatment. They require highly
azotised food with a considerable amount of oleaginous material. They
have considerable power of imitation, even bordering on being mimics.
They are humorous, and a lively sense of the ridiculous often colours
their mimicry. This faculty of imitation may be cultivated to a very
great extent, and a practical direction given to the results obtained. They
are usually able to speak; the speech is thick and indistinct, but may be
improved very greatly by a well—directed scheme of tongue gymnastics. ‘v’

3

i The co-ordinating faculty is abnormal, but not so defective that it cannot
be greatly strengthened. By systematic training, considerable manipula-
tive power may be obtained.

The circulation is feeble, and whatever advance is made intellectually in
the summer, some amount of retrogression may be expected in the winter.
Their mental and physical capabilities are, in fact, directly as the tempera-
ture.

The improvement which training effects in them is greatly in excess of
what would be predicated if one did not know the characteristics of the
type. The life expectancy, however, is far below the average, and the
tendency is to the tuberculosis, which I believe to be the hereditary
origin of the degeneracy.

Apart from the practical bearing of this attempt at an ethnic classifica—
tion, considerable philosophical interest attaches to it. The tendency in
the present day is to reject the opinion that the various races are merely
varieties of the human family having a common origin, and to insist that
climatic, or other influences, are insufficient to account for the different
types of man. Here, however, we have examples of retrogression, or at all
events, of departure from one type and the assumption of the character-
istics of another. If these great racial divisions are fixed and definite, how
comes it that disease is able to break down the barrier, and to simulate
so closely the features of the members of another division. I cannot but
think that the observations which I have recorded, are indications that
the differences in the races are not specific but variable.

These examples of the result of degeneracy among mankind, appear
to me to furnish some arguments in favour of the unity of the human
species.”

IDIOCY:

and
ITS TREATMENT
by the
PHYSIOLOGICAL METHOD

by
EDWARD SEGUIN, MD.

New York
William Wood & Co., 61 Walker Street
1866

 

V”?—

Page 43:

“Endemic idiocy is interwoven with alpine 0r lowland cretinism and
bronchocele, producing at birth the cretin—idiot, in youth the cretin-
imbecile, and after puberty the cretin (simplex), able to procreate his
like. Thus cretinism, besides its apparent geological connexion or origin, is
hereditary, like scrofula; a taint in the blood, preparing children for
idiocy or imbecility, according to the age of its invasion. This alpine
cretinism is due to locality and to intermarriage, and it is never isolated;
it affects the skin with a bistre or maroon color. Its action does not cease

Page 44:

after having produced idiocy, for if its victim be put in a locality where
cretinism will aggravate, idiocy will do the same; and if placed in circum—
stances of climate, of hygiene, of exercise, where cretinism may improve,
idiocy will also improve, and shall become more amenable to the physio-
logical treatment, as the labors and devotion of Guggenbfil have abun-
dantly proved. The low-land cretinism of Belgium, of Virginia, etc.,
with its discrete goitre, its grey and dirty straw—colored skin, bears the
same relation to idiocy and imbecility as the more extensive alpine
variety.

SO does the furfuraceous cretinism, with its milk—white, rosy, and
peeling skin; with its shortcomings of all the integuments, which give
an unfinished aspect to the truncated fingers and nose; with its cracked
lips and tongue; with its red, ectropic conjunctiva, coming out to supply
the curtailed skin at the margin of the lids.

Page 381 :

As cretinism affects evidently the skin, we cannot dissever from it a
form of idiocy in which the skin is furfuraceous. Our incomplete studies do
not permit of its actual classification; but it is better to leave things by
themselves, than to force them into classes which have their foundation
only on paper.”

DAS MENSCHLICHE AUGE
UND SEINE
ERBANLAGEN

VON

Dr. P. J. Waardenburg

Augenarzt in Arnhem

“i:
Martinus ij hoff
1932

Mongolismus (Mongoloide Idiotie)*

Page 47:

“Ich moechte die Cytologen anregen zu untersuchen, ob es nicht
moeglich waere, dass hier beim Menschen ein Beispiel einer bestimmten
Chromosomenaberration vorlaege. Warum sollte dieselbe auch nicht
wohl einmal beim Menschen vorkommen koennen, und warum waere es
dann nicht moeglich, dass sie, wenn sie nicht letal wirkt, eine eingreifende
Konstitutionsanomalie verursachen wuerde: Man sollte einmal beim
Mongolismus untersuchen, ob hier vielleicht ‘chromosomal deficiency’
durch ‘non—disjunction’ oder das umgekehrte ‘chromosomal duplication’
vorliegt. Es ist natuerlich auch denkbar, dass nur eine Stoerung von
Chromosomen—Teilen (Chromomeren): eine ‘sectional deficiency’ durch
‘translocation’ oder umgekehrt eine ‘sectional duplication’ vorliegt; das
waere dann weniger leicht cytologisch zu beweisen. Meine Hypothese hat
jedenfalls den Vorteil, dass sie kontrollierbar

Page 48:

ist und dass sie auch den evtl. Einfluss des Alters der Frau erklaeren
wuerde . . .”

P. J. Waardenburg, Das menschliche Auge und seine Erbanlagen, 1932.
(Translation)

Mongolism (Mongoloid Idiocy)

I should like to suggest to the cytologists that they investigate if this
condition may be an example of a definite chromosomal aberration in man.
Why could a chromosomal aberration not occur in man, too, if it were not
lethal; why could such an aberration not produce a generalized constitu-
tional abnormality. One should study mongolism for its possible associa-
tion with a ‘chromosomal deficiency’ through ‘non-disjunction’, or the
reverse, ‘chromosomal duplication’. Of course, it is possible, too, that
there is only a disturbance of part of the chromosomes (chromomeres),
a ‘sectional deficiency’ through translocation, or the reverse, a ‘sectional
duplication’. This situation would be more difficult to prove cytologically.
At any rate, my hypothesis has the advantage that it can be tested. It
would, in addition, explain the potential effect of the maternal age.

* Reprinted with permission of the author.

602 ACADEMIE DES SCIENCES.

SEANCE DU 26 JANVIER 1959.

GENETIQUE. — Les chromosome: humains en culture de tissus. Note de
M. Jénfine LEJEUNE, M"' MARTIN! GAU’I'HIEB et M. Rumoxn TURPIN,
présentée par M. Léon Binel.

Une technique de culture de fibroblastes a court terme permet d’étudier systema-
tiquemenl les [.6 chromosomes humains. La presence, chez. la Femme, de qualre lrés
relils chromosomes 3 cenlromére quasi terminal, el de cinq du méme type chez
'llomme, aulorise un diagnostic du sexe chromosomique. Chez trois garcons mon—
goliens, ce critére a élé mis en échec du {ail de la presence de 47 chromosomes.

Technique de culture. — Un fragment de tissu conjonctif non adipeux
(fascia lata) est prélevé aseptiquement et cultivé sur lamelle micros-
copique selon la technique habituelle. Apres suppression de l’explant on
obtient une couche monocellulairc sur la lamelle.

L’éclatement in situ des ccllules par choc hypotonique, suivi de fixation
et du séchage a l’air libre (Rothfelds et Siminovitch) (‘), permet une
excellente dispersion des chromosomes. La coloration utilisée est du type
Feulgen, modifie’.

Technique d’examen. — Les preparations sont photographiées sur film
« microfile Kodak » (grossissement X 375 sur le film; microscope « Leitz »
immersion X 90, oculaire périplan X' 10, chambre « Mikas » 1/3),et secon-
«lairement, le cliché est agrandi huit fois pour obtenir un grandissement
de X 3 000 sur l’épreuve. Les comptages sur épreuvcs sont ensuite vérifiés
par observation visuelle en cas de dillicultés d’interprétation.

Toutes les preparations étudiées ont moins d’un mois de culture. Au-
dela du septiéme repiquage in vitro, on constate parfois en ellet une varié-
gation du nombre chromosomique (tétraploidie, aneuploidie) alors que ce
nombre est au contraire trés constant lors des tous premiers passages.

Observations. — Les examens pratiqués sur plusieurs lignées cellulaires
parallelcs pour chaque indiviilu (lonnent des résultats entiérement eohé-
rents. Chez quatre garcons normaux, un garcon malformé (absence de
main), un garcon atteint d’ostéopsathyrose et chez deux filles normales,
le nombre diploide normal de 46 a été retrouvé.

10

Chcz tous les garcons cinq trés petits chromosomes ont été observés,
alors que chez les deux filles, quatre chromosomes seulement de ce type
sont décclables. Lc chromosome y, ainsi que l’ont supposé Ford et
Jacobs (2), est probablcment l’un d’entre eux.

Le diagnostic individuel du chromosome 1:, présent é double exemplaire
chez Ia chmc, est faisable chez l’Homme aprés elimination des difl'érentes
paires possibles. Cependant cette recherche n’est réalisable que sur quelque's
cellules exceptionnellement claires.

Chez trois garcons mongoliens, 1e nombre chromosomique trouvé est
de 47 sur différentes préparations, pour chacun des trois individ‘us. Dans les
trois cas 1e diagnostic du sexe a été rendu impossible du fait de la présence
d’un trés petit chromosome supplémcntaire qu’on ne peut diflérencier
des cinq petits éléments presque télocentriques, normalement rencontrés
chez l’Homme. '

La signification de cctte observation et l’étude systématique d’autres
maladies constitutionnelles font l’objet de recherches en cours.

‘ K. H. ROTHFELDS et L. SIMINOVITCH, Stain Technology, 33, 1958, p. 73-78.
E. Fonn el P. A. JACOBS, Nature, 181, 1958, p. 1565-1568.

 

Reprinted with the permission of the senior aullmr.

11

C. R. Acad. Sci. (Paris) 248: 602—03, 1959.
(Partial translation)

Human chromosomes in tissue culture.

...In three mongoloid boys, 47 chromosomes were found in each of
several preparations. In these three cases, the diagnosis of the sex was
impossible due to the presence of a very small, supplementary chromosome
which cannot be differentiated from the 5 small telocentric elements
which are normally present in the male.

The significance of this observation, together with the systematic study
of other constitutional diseases, will be pursued in current research.

12

ACADEM IE DES SCIENCES.

SEANCE DU 16 MARS 195‘). 1721
GENETIQLIZ. — Etude; -:’-::‘ Cormoscmcs somatiques rle neuf en/anls
mongoliens. Note de M. JénBME Luann, Mlle Mun": (nu-nan
et M. RAYMOND Tummy, présentée par M. Léon Binct.

La culture de fibroblastes de neuf entants mongoliens ré‘vele la présence dc
47 chromosomes, 1e chromosome surnuméraire étant un petit téloccntrique.
L'hypothese du déterminisme chromosomique du mongolisme est envisagée.

Chez neuf enfants mongoliens l’étude des mitoses de fibroblastcs en
cult-"m réuente (‘) nous a permis de constater réguliéremont la présencc
de 47 chromosomes. Les observations faites duns PM "9-1! on“ {vinq garcons
et quatre filles) sont consignées dans le tableau ei-aprés.

Le nombi-c de cellules comptées dans chaqUu cas yruu‘, scmbler relati-
vement fail-32. Leo-i tient au fait que seules ont été retenues dans c9 tableau
les images ne prétant qu’a un minimum d’interprétation.

L’apparente variation du nombre chromosomique dans les collulcs
« douteuses », c'est-é—dire celles dont chaque chromosome n3 pout élrc
individualisé avec un'e absolue certitude est signaléc par dc noml‘roux
auteurs (’). Ce phénouiéne ne nous semble pas corrospondrc é um: réalilé
cytologique, mais réflétc simplemcnt les dillicultés d’uno technique délicatc.

II nous "semble donc logique de préfércr un petit nombrc do (“HOLn
brements absolument certains (cell-Iles « parfaites I) tlu tableau) 5: une
socumulation d’observations douteuses dont la variance statistique ne
dépend que de l’imprécision des observations.

L’analyse de la garniture chromosomique des ccliulcs « pal-[aims »
révéle chez les garcons mongoliens la présence de 6 petits télocentriques
(au lieu de 5 chez l’Homme normal) et chez les filles mongbliennes de 5 petits
télocentriques (au lieu de 4 chez la Femme normale).

Les cellules « .parfaites » d’individus non‘mongoliens, ne présentant
jamais ces caractéristiques (‘), i1 nous semble légitime de conclure qu’il
existe chez les mongoliens un petit chromosome télocentrique surnumé-
raire, rendant compte du chiffre anorrnal de 47.

13

Nombre de cellules examinées dam chaque cas.

 

 

Ccllules diplo'I'dcs Cellulcs léLraplo'I'des
Cellules u' douteusea ». Cellules or parfaitcs n. Cellules « parfaites ».
Nombre 4‘7" /—\7\" w
de chromosomes . . . 46. 47. 48. 46. 47. ’18. ~ 9.1. — —
Mg 1 ........ 6 10 2 — l I — — I — 3n
3' Mg 2 ........ - 2 I 7 9 — 7 7 7 .2
.8." Mg3 ........ — I I ~ 7 — - 9. 7 I I
5 Mg ll ........ — 3 — 7 I 7 _ 7 6
Mg 5 (‘) . . . . - — 7 7 8 A o _ o 8
Mg A ........ I 6 I — 5 — 7 7 7 I3
3 Mg B ........ I 2 — 7 8 _ 7 7 o 1 1
E Mg C ........ I 2 I 7 4 _ 7 A _ 8
Mg D ....... 1 l 2 7 A 7 . _ _ 3
Io 27 8 57 3 105

(') Ce! enfant est. issu d’une grossesse gémellaire. Son coqunau normal, exaIIIiné parallélcmcnt
posséde 46 chrommomes don! 5 petiu lélocentriqnes.

Discussion. — Pour expliquer l’ensemble do cos observations, l’hypo-
thésc de la non-disjonction lors de la méiose, d’une pairc de petits télocen-
triques pourrait étre envisagée. Comme on sait que chez la Drosophilo
la non-disjonction est fortement influencée par le vicillissement Inaternel,
un tel mécanisme rcndrait compte de l’accroissement de fréquence du
Inongolisme on fonction do l’ége avandé de la more.

11 n’est cependant pas possible d’alIirmcr que le petit téloccntrique
surnuIIIéI'aire soit certainemcnt un chromosome normal et l’on ne peut
écarter £1 l'heure aotuelle la possibilité qu’il s’agisse d’un fragment résultant
d’un autrc type d’aberration.

(') J. LEJEUNE, M. GAUTIEH at R. TURPIN, Complex rendus, 248, I959, p. 602.
(=) P. A. JACOBS et J. A. STRONG, Nature, 183, 1959, p. 302-303.

(Chaire d‘Hygiéne e! Clinique I” Enfance, Institut de Progénése, Paris.)

Reprinted with lhe pI-rmiasinn of Ihe senior author.

14

C. R. Acad. Sci. (Paris) 248: 1721—22, 1959.
(Translation)

Study of the somatic chromosomes of 9 mongoloid children.

The fibroblast cultures from 9 mongoloid children reveal the presence of
47 chromosomes. The supernumerary chromosome is a small telocentric
body. A hypothesis of the chromosomal determination of mongolism is
presented.

Studying the mitoses of fibroblasts in tissue cultures from 9 mongoloid
children, we regularly found 47 chromosomes. The observations from these
9 cases (5 boys and 4 girls) are presented in the table.

The number of cells analyzed in each case may seem to be small. In this
table, only those chromosomal pictures are reported that require a
minimum of interpretation.

An apparent variation in the number of the chromosomes in ”doubtful”
cells, i.e., cells in which each single chromosome cannot be identified
definitely, has been reported by numerous authors. We think that this
phenomenon does not correspond to a cytologic reality but that it simply
reflects the difficulties of a delicate technique.

It seems logical to us to prefer a small number of definite counts
(“perfect” cells of the table) to an accumulation of doubtful observations,
the statistical variance of which depends upon the imprecision of the
observations.

The analysis of the chromosomal sets of the “perfect” cells discloses
the presence of 6 small, telocentric bodies in the mongoloid boys (instead
of 5 in the normal male) and of 5 small teloecntrics in the mongoloid
girls (instead of 4 in the normal female).

The “perfect” cells of non-mongoloid individuals never present these
characteristics. We, therefore, legitimately conclude that in the mon—
goloids a small, telocentric, supernumerary chromosome exists which
accounts for the abnormal number of 47.

DISCUSSION.

To explain the whole set of these observations, the hypothesis of the
non-disjunction at the meiosis of a pair of small, teloecntrics is proposed.
We know that in Drosophila non-disjunction is strongly influenced by
maternal aging. Therefore, such a mechanism could account for the
increase in the rate of mongolism with the advancing age of the mother.

However, we cannot affirm that the small, teloecntric, supernumerary
body is definitely a normal chromosome because, at the present time,
we cannot discount the possiblity that it may be a fragment resulting
from another type of aberration.

Lancet I: 775, 1961.
Letters To The Editor

“MONGOLISM”

“Sir,—It has long been recognised that the terms “mongolian idiocy”,
“mongolism”, “mongoloid”, &c., as applied to a specific type Of mental
deficiency, have misleading connotations. The occurrence Of this anomaly
among Europeans and their descendants is not related to the segregation
of genes derived from Asians; its appearance among members of Asian
populations suggests such ambiguous designations as “mongol Mon-
goloid”; and the increasing participation of Chinese and Japanese in-
vestigators in the study of the condition imposes on them the use of an
embarrassing term. We urge, therefore, that the expressions which imply
a racial aspect of the condition be no longer used.

Some of the undersigned are inclined to replace the term “mongolism”
by such designations as “Langdon—Down anomaly”, or “Down’s syn-
drome or anomaly” or “congenital aeromicria”. Several others believe
that this is an appropriate time to introduce the term “trisomy 21
anomaly” which would include cases of simple trisomy as well as trans-
locations. It is hoped that agreement on a specific phrase will soon crys-

tallise if once the term “ mongolism” has been abandoned.”

GORDON ALLEN

Bethesda, Maryland.
C. E. BENDA

Waverly, Massachusetts.
J. A. BOOK

Uppsala, Sweden.
C. O. CARTER

London, England.
C. E. FORD

Harwell, England.
E. H. Y. CHU

Oak Ridge, Tennessee.
E. HANHART

Ascona, Switzerland.
GEORGE JERVIS

Letehworth Village, New York.

W. LANGDON—DOWN

N ormansfield, England.
J. LEJEUNE

Paris, France.

HIDEO NISHIMURA
Kyoto, Japan.
J. QSTER
Randers, Denmark.
L. S. PENROSE
London, England.
1’. E. POLANI
London, England.
EDITH L. POTTER
Chicago, Illinois.
CURT STERN
Berkeley, California.
R. TURPIN
Paris, France.
J. WARKANY
Cincinnati, Ohio.
HERMAN YANNET
Southberry, Connecticut.

 

 

PREFACE

This reference biblography of publications on Down’s syndrome is
selected from a review of the world literature. The criteria for inclusion of
a publication in the bibliography are:

1. Originality of observation reported;

2. Description and analysis of a representative series of cases;

3. Presentation of a new hypothesis on the etiology of Down’s syn-

drome;

4. Review of pertinent publications.

The original publications have all been reviewed. Entries indicated by
(BIBL) contain 20 or more references which may not be reprinted in this
reference bibliography.

Five other extensive bibliographies on Down’s syndrome have been
published recently by Brousseau, Benda, Stiles, Zellweger, and Penrose.
Due to the special interests of the authors, their bibliographies overlap
only in part (see Table I). At the present time it may be estimated that of
the important publications on Down’s syndrome, 10 per cent were pub-
lished in 1900 or before, 25 per cent between 1901 and 1950, and 65 per
cent appeared in 1951 and later.

SIX BIBLIOGRAPHIES ON MONGOLISM

Distribution of Publications by Year and Number

 

Year of Brousseau Benda Stiles Zellweger Penrose Vollman
publication (1928) (1960) (1965) (1965) (1966) (1969)

 

 

1828 ,,,,,,,,,,, — ~ — — 1 ~—
1831—40___,,_._ — — — — 2 —
1841-50 ________ l — —— 1 2 1
1851—60 ........ - — — — 2 _
1861—70._,,,-,. 2 2 — 2 3 2
1871—80 ________ 4 4 — 2 3 2
1881—90 ........ 8 5 1 2 5 —
1891~1900_,_,,, 34 4 1 7 14 6
1901—10 ________ 205 12 8 17 35 9
1911—20,__,,,__ 117 9 14 8 17 17
1921-30 ________ 77 31 54 29 31 49
1931—40 ________ — 65 79 49 62 78
1941—50, ........ — 54 90 41 37 48
1951-60..-,,,,_ — 116 294 185 153 149
1961—65 ________ — — 134 290 308 196
1966—69 ________ ~ ~ —— ~ — 135
No Date ....... 34 2 3 4 — —
Total- _ _ _ 482 304 680 637 675 692

 

19

.0!

10.

11.

12.

13.

14.
15.

BIBLIOGRAPHY

. ABT, I. A. Diseases and fate of twins. New York J. Med. 25: 511—

 

19, 1925. (BIBL)
. Diseases and fate of twins. J. Iowa Med. Soc. 14: 395—403,
1924. (BIBL)

. ALDRICH, C. A. Preventive medicine and mongolism. Amer. J.

Ment. Defic. 52: 127~29, 1947.

ALLEN, G. and KALLMANN, F. J. Etiology of mental subnormality
in twins. In: Kallmann, F. J. ed. Expanding Goals of Genetics
in Psychiatry. New York, Grune & Stratton, 1962, 174~91.

(BIBL)

 

et al. Mongolism. Lancet 1: 775, 1961.

and KALLMANN, F. J. Mongolism in twin sibships. Acta

Genet. (Basel) 7: 385—93, 1957.

. Patterns of discovery in mental deficiency. Eugen. Quart.

4: 206—07, 1957.

and BAROFF, G. S. Mongoloid twins and their siblings.

Aeta Genet. (Basel) 5: 294—326, 1955. (BIBL)

and KALLMANN, F. J. Frequency and types of mental re-
tardation in twins. Amer. J. Hum. Genet. 7: 15—20, 1955.

ALLISON, A. C. and PATON, G. R. Chromosomal abnormalities in
human diploid cells infected with mycoplasma and their possible
relevance to the aetiology of Down’s syndrome (mongolism).
Lancet 2: 1229—30, 1966.

APPLETON, M. D. and PRITHAM, G. H. Biochemical studies in
mongolism. II. The influence of age and sex on the plasma pro-
teins. Amer. J. Ment. Defic. 67: 521—25, 1963.

ARMSTRONG, H. The etiology ’of mongolism; with a case of mongol
twin. Brit. Nled. J. 1: 1106—07, 1928.

ATKINS, L. and ROSENTHAL, M. K. Multiple congenital abnormali-
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AUSTIN, C. R. The Mammalian Egg. Springfield, 111., Thomas, 1961.

. Anomalies of fertilization leading to triploidy. J. Cell.

Comp. Physiol. 56: Suppl. 1, 1—15, 1960. (BIBL)

 

 

 

 

 

21

 

 

- z"-

 

 

16.

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23.

24.

30.

31.

BABONNEIX, L. et VILLETTE, J. Idiotie mongolienne familiale. Arch.
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BAIN, A. D., SMITH, I. I. and GAULD, I. K. Newborn after prolonged
leakage of liquor amnii. Brit. Med. J. 2: 598—99, 1964.

BAIRD, P. A. and MILLER, J. R. Some epidemiological aspects of
Down’s syndrome in British Columbia. Brit. J. Prev. Soc. Med.
22: 81—85, 1968. (BIBL)

BARNICOT, N. A., ELLIS, J. R. and PENROSE, L. S. Translocation and
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BAROFF, G. S. Current theories on the etiology of mongolism.
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. BARR, M. L. The sex chromosomes in evolution and in medicine.

Canad. Med. Ass. J. 95: 1137—48, 1966.

and CARR, D. H. Nuclear sex. In: Hamerton, J. L., ed.
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BARRETT, J. E. Research in mongolism. Virginia Med. Monthly 81:
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BAUER, .A. Ueber die Aetiologie des Mongolismus anhand der
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90: 169—80, 1930. (BIBL)

 

. BAYER, M. E., BLUMBERG, B. S. and WERNER, B. Particles associ—

ated with Australia antigen in the sera of patients with leukaemia,
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. BEALL, G. and STANTON, R. G. Reduction in the number of mon-

golian defectives—a result of family limitation. Canad. J. Public
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. BEDDIE, A. and OSMOND, H. Mothers, mongols, and mores. Canad.

Med. Ass. J. 73: 167—70, 1955.

. BEIDLEMAN, B. Mongolism: a selective review. Amer. J. Ment.

Defic. 50: 35—53, 1945. (BIBL)
BENCINI, M. A. Contributo clinico allo studio del mongolismo nei
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Acta Genet. Med. (Roma) 1: 29—39, 1952. (BIBL)
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. Mongolism: Clinical manifestations, pathology and eti—
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63. (BIBL)
. Mongolism. A comprehensive review. Arch. Pediat. 73:
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23

B

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49.

 

 

 

 

 

 

 

 

 

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. Studies in mongolism. II. The thyroid gland. Arch. Neurol.
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. Studies in the endocrine pathology of mongoloid deficiency.
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BEOLCHINI, P. E. Ricerche statistiche e genetiche sulle malforma-
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BERG, J. M. and KIRMAN, B. H. The mentally defective twin. Brit.
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BERKELEY, W. N. Notes on a new treatment for mongolian idiocy
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BERRY, W. T. C. A study of the incidence of mongolism in relation
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BICKEL, J. und SCHAER, M. Die Haeufigkeit von Geburtsgebrechen.
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BLECHMANN, G. Les jumeaus mongoliens. Médecine (Paris) 17:
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——, GUILLAUMIN, C. 0. ct KAnM; ”x, 1.. l"*~"se--.-‘ation de deux
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. Mongoloid imbecility: frequency, race and sex. Amer. J.
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——. The occurrence of mongolism in Ethiopians. JAMA 84:
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BLUMBERG, B. 9., SU’E‘NICK, A. I. and LONDON, W. T. Australia
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, GERSTLEY, B. J. S., HUNGERFORD, D. A., LONDON, W. T.

and SUTNICK, A. I. A serum antigen (Australia antigen) in Down’s

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31, 1967. (BIBL)

 

 

 

 

 

 

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—— and ———». Notes on the epidemiology of mongolism in
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85

INDEX

Abortion _______________________ 30,
37, 39, 87489, 104, 123, 12.3, 170,
208, 218, 222, 260, 278, 281, 286,
321, 322, 331, 336, 365, 377, 379,
397, 404, 436, 454, 462, 504, 559,

.367, 580, 585, 589, 606, 607, 633,
675
Adre11als___30, 76, 232, 276, 456, 466, 470
Age, maternal____,,_,,,,,_1,_..._ 6,

9, 24, 26, 28, 30, 35— 37,39, 4.3, 57,
.38, 66, 69, 73, 7.3, 8082, 83, 93, 97,
98, 112, 114, 118, 119, 123, 12.3,
137, 143, 1.32, 164, 170, 171, 173,
177, 179-183, 195, 200, 208, 218,
222, 223, 228, 237, 246, 254, 260,
262, 267, 268, 271, 274, 278, 28],
286, 287, 290, 292, 294, 296, 301,
303, 307, 312, 318, 321, 329, 331,
332, 336, 341, 343, 365, 368—71,
375, 377, 384, 39052, 397, 398,
401, 404, 415, 416, 435, 437, 443,
446, 450, 451, 454, 462, 470—72,
474, 478, 479, 485, 486, 489-94,
504, 505, 508, .319, 521, .322, 524,
525, 527, .328, 530, 532, 535, 542,

546, 557439, .361, 567, .379, 582,
588—90, 594, 601, 606, 607, 610,
612, 631, 635, 642, 644, 645, 647,
655, 663, 668, 671, 673

Age, parental ,,,,,,,,,,,,,,,, __ 75,
181, 182, 402, 470, 483, .342, 557,
582, 655

Age, pate1nal ,,,,,,,,, , , 58,
7), 152, 171, 181,182, 218, 321,
41.3, 424, 4.31, 462, 470, 476, 493,
.324, 558, 582

Amniotic fluid pressure ,,,,,,,,,,, 28, 171

Anthropometl‘y __________ 126, 127, 120

Birth interval ,,,,,,,,,,,,,,,,,,, 58,

137, 155, 171, 208, 286, 321, 397,

402, 404, 443, 491, 589
Birth weight ,,,,,,,,,,,,,,,,,, 81,
173, 208, 241, 248, 278, 286, 330,

370, 397, 447, 470, .357,
607, 610, 631, 642

Blood gr1111ps,_,,1,,,1, ,, 8,

13.3, 174, 231, 279, 317, 349, 437,

4.34, 470, 49.3, 575, 607, 617, 6.32

568, .387,

 

Blood sugar ,,,,,,,,,,,,,,,,,,,, 30
Brain ______________________ 208, 291, 577
Coitus, frequency. _____ 85, 230, 401, 467
Contraceptives. _ , ,26, 28, 80, 155, 583
Corticosteroids, , _ _ 1 , _ ... . , , _ _ _ $149, 550
Dermatoglyphim~ ________________ 6,

8, 19, 20, 24, 28, 29, 131, 132, 135,
136, 146, 135,194, 394, 410, 464,
470, 477, 479, .334, 562, 617, 630,
647, 652, 653, 659, 661, 663

Diabetes mellitus ________________ 51,

120—22, 3.32, 448, 470, 627
Diagnosis ,,,,,,,,,,,,,,,,,,,,,, 97
EEG ,,,,,,,,,,,,,,,,,,,,,,,,,, 212
Embryology ____________________ 133, 320
Endometrium ,,,,,,,,,,,,,,,,, 171, 172
Fertility ________________________ 8,

184, 198, 202, 254, 259, 310, 366,
401,432, 523, "153, 554, 556, 603,
617, 634, 641

Fertilization ,,,,,,,,,,,,,,,, 15, 162, 215

Fertilization, delayed ____________ 15,
28, 53, 54, 70, 85, 219, 401, 676

Gonadotropins ,,,,,,,,,,,,,,,,,,, 65

Gravidity ,,,,,,,,,,,,,,,,,,,,,, 28,
30, 36, 39, 45, 57, 58, 75, 81, 137,
173, 208, 218, 246, 286, 294, 345,
368, 370, 372, 387, 392, 397, 402,
404, 433, 446, 452, 470, 489, 491,
492, 542, 559, 567, 589, .390, 597,
601, 607, 642, 64.3, 663

Growth ,,,,,,,,,,,,,,,,,,,,,,, 30,
43, 137, 241, 294, 300, 340, 4.34,
455, 549, 568, 579

Gynecologic diseases_,397, 564, 585, 580

Hemoglobin ,,,,,,,,,,,,,,,,,,,, 09

Hepatitis, infectious ,,,,,,,,,,,, 18,
2.3, 63, 64, 113, 118, 175,223,258,
333, 334, 353, 374, 380, 400, 602,
621, 622, 629

Illegitimacy ,,,,,,, , 177, 208, 447, 644

ImmunologyJU, 25, 84, 134,267, 412, 612

Implantation , ,28, 171, 172, 180, 222

Incidence_,_... ,__. V, n. , ,, 18,
28, 30, 35,36, 40, 60, 61, 66, 60, 81,
82,97,‘)8,112,11:5,121, 144,155,
201, 286, 321, 34.3, 3.33, 447, 461,
487, 319,521, 530,535, 557, 558,
'"182, 100, 647, 615, 663, 671

86

Karyotype ,,,,,,,,,,,,,,,,,, 13,
19, 30, 68, 73, 78, 79, 86—89, 94,
110, 135, 140, 143, 148, 161, 163,
189, 193, 197, 198, 200, 203, 223,
226, 239, 241, 247, 250, 251, 253,
264, 283, 285, 296—98, 305, 311,
322, 324, 354, 367, 373, 390, 394,
410, 414716, 421, 422, 428, 436,
463, 470, 471, 475, 477, 478, 496,
497, 503~08, 510, 513, 522, 526,
532, 534, 546, 548, 571, 576, 592,
606, 607, 610—14, 618, 619, 633,
634, 638, 647, 656, 661, 666, 667,
670, 679, 681, 684, 685, 687790,
692

Leucocytes ,96, 411, 421, 470, 572, 652,685

Leukemia ,,,,,,,,,,,,,,,,,,,,,,, 25,
64, 95, 112, 203, 204, 254, 1124, 338
339, 601, 630

Malformations, generaL," ,_ .1. ., 13,
46, 50, 67, 75, 90, 91, 95, 98, 119,
122, 124, 155, 171, 173, 176, 213,
214, 218, 225, 229, 235, 238, 240,
241, 246, 261, 268, 280, 289, 290,
292, 294, 307, 326, 330, 331, 351,
368, 369, 372, 379, 390, 391, 394,
397, 404, 408, 414, 436, 438, 446,
4.54, 462, 465, 481, 493, 498, 501,
525,559, 567, 610, 611, 622, 640

ArIalformations, cardiacc,,,,_ 176,
213, 214, 278, 291, 390, 417, 470,
5'10, 539, 552, 610

\[enarche ,,,,,,,,, 123,
145, 155, 208, 222, 397, 446, 51.5,
'156, '180, 589, 60'1

Menstrual cycle, 37, 2‘22, 556, 580, 603
\letabolisrn, basaL. ,,,,,,,, ,, 56
Mortality, general ,,,,, ,. 1 .. 81,

95, 11"), 116,1"1'1 176, 196, 201,
208, 281, 294, 321, 1'40, 34:" 1, .172,
377, 443, 444, 462, 464, 470, 521,
.544, 573, 598, 605

Mortality, fetal ,,,,,,,,,,,,,,,, 88,
217, 321, 365, 397, 446, 489, 567,
580, 606, 631, 676

Mosai(3i8m,,__ ,,,,,,,,,,,,,, 164,
373, 399, 416, 470, 471, 508, 522,
5515, 543, 593, 638, 647, 684, 688,
690

()ligohydramnios ,,,,,,,,,,, , , 17

()vum., ,,,,,, 14, 271, 307, 384, '193, 676

Periodicity, seasonal ,,,,,,, 1 _ 142,

237, 290, 332, 348, 353, 446, .501,
521, 600

Phenylketouuria ,,,,,,,,,,,, , , 185

 

Phosphatase, alkaline ____________ 86, 470

Pituitary__28, 30, 40, 41, 65, 291, 448

Placent.a,.14162, 335, 397, 568, 626, 640

Pregnancy, complicatiom _________ 37,
76, 77, 238, 286, 292, 371, 397, 585,
608, 624

Pregnancy, diirati011,,248, 397, 446, 587

Race ___________________________ 60762,
71, 83, 126, 127,129, 137, 142, 153,
157, 171, 173, 220, 222, 273, 278,
295, 301, 307, 375, 392, 397, 418,
430, 461, 516, 560, 561, 567, 584,
639, 644~46, 663, 672

Radiation, maternal _____________ 92,
112, 164, 316, 340, 377, 393, 397,
565, 581, 612, 656, 657

Recurrence _____________________ 35,
69, 93, 94, 197, 257, 343, 390, 496,
529

Sex ratio _______________________ 9,

60, 61, 75, 80, 81, 104, 105, 112,
118,142,155, 208, 218, 240, 246,
278, 281, 282, 290, 307, 321, 345,
365, 371, 373, 385, 392, 3.97, 424,
430, 446, 447, 521, 527, 542, 567,
606, 631, 656, 676

Sibship _________________________ 16,
19, 20, 30, 36, 39, 155, 195, 197,
227, 241, 254, 260, 261, 284, 300,
308, 309, 344, 345, 403, 416, 425,
450, 458, 485, 488, 523, 537, 567,
645, 647, 651, 652, 655, 681, 684,
687, 691

Social class ,,,,,,,,,, 81, 330, 368, 490

Sterility_30, 53, 58, 180,271, 446, 5.56, 612

St ress _____ , ,,,,,,,,,,,,,,,,,,, 156, 624

Syphilis,“ ”.75, 171, 397, 406, 557, 609

Terminology. ,5, 30, 36, 103, 153, 154, 327

Thyroid, dysfunction ,,,,,,,,,,,, 28,
30, 40, 42, 84, 107—09, 123, 134,
152, 166, 171, 180, 183, 232, 336,
386, 412, 435, 466, 470, 612, 627

Translocation ,,,,,,,,,,,,,,,,,,, 19,
73, 86, 89, 91, 94, 112, 136, 143,
163, 164, 189, 200, 226, 242, 243,
254, 256, 257, 284, 382, 390, 410,
414~16, 470, 479, 480, 496, 505,
508, 510, 511, 532, 533, 535, 546,
548, 560, 618, 627, 679, 681, 687,
688

Trisomy ,,,,,,,,,,,,,,,,,,,,, 13,
19, 86—89, 91, 100, 110, 112, 136,
143, 175, 200, 239, 241, 254, 269,
284, 382, 390, 399, 416, 4.51, 4.57,
463, 470, 471, 503, .505, 506, .508,

87

510, 522, 535, 543, 546, 548, 575, 301—04, 306, 307, 313, 315, 319,

594, 634, 637, 661, 666, 688 324, 341, 345, 346, 350, 351, 365,
Tuberculosis ______ 75, 153, 397, 398, 557 376, 381, 383—87, 396, 405, 407,
Twins __________________________ 1, 409, 416, 419, 427, 429, 434, 436,

6, 8, 9, 12, 20, 24, 28—30, 36, 47, 437, 439, 441, 442, 446, 450, 453—

55, 56, 75, 96, 102, 111, 118, 130, 55, 470, 474, 478, 485, 490, 498,

146, 148—50, 155, 160, 171, 173, 520, 528, 531, 541, 542, 551, 567,

178, 180, 194, 208—10, 216—18, 222, 574, 586, 588, 610, 625, 626, 632,

228, 229, 233, 234, 244—46, 254, 641, 642, 649, 659, 660, 665, 669,

260, 270, 273, 274, 283, 289, 294, 676, 680, 682, 687

564’ U.S. GOVERNMENT PRINTING OFFICE: 1959 0—351-537

88

 

 

 

 

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Index 0 93

 

for potential to induce hypersensitivity, 30-31
selection of, 31
see also Testing; Tier testing
2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), 36, 51
See also Dioxin
Tetraethyl lead, 51
Tetrahydrocannibinol, 51
Therapeutic drugs. See Drugs
4,4—thiobis (6-t-butyl-m-cresol), 51
Tier testing
EPA approach for biochemical pesticides and, 58-59
EPA efforts to develop, 52, 63
FDA perspective on appropriateness of, 31
for possible immunotoxicants, 31
interest in developing for hypersensitivity assess-
ment, 31
NTP approach to, 49-52
Toluene, 51
Toluene-2,3—diisocyanate (TDI)
hypersensitivity and, 39
regulation by OSHA as sensitizer, 39, 55
Tort law
congressional interest in, 75
description of, 72-73
difficulties in proving immune system injury under,
75-76
immune system injury and, 73—75

Toxic Release Inventory (TRI) — NLM, 62
Toxic Substances Control Act (TSCA), 54, 56, 59-60
Toxic torts. See Tort law
Toxicology, general principles of, 7, 21-23
Toxicology Data Network (TOXNET) — NLM, 62
TOXLINE — NLM, 62-63
Tributyltin oxide, 52
Triethanolamine, 52
Tris (2,3-dichloropropyl) phosphate, 51
Vanadium pentoxide, 51
Vinyl chloride, 57
4—vinyl~1-cyclohexene diepoxide, 51
White cells, 4, 15
Wisconsin, workers’ compensation and, 70
Woodrow Sterling et al. v. Velsicol Chemical Corp, 73
Worker Right-to—Know, 8, 61, 63
Workers’ compensation
congressional interest in, 72
description of, 69-71
difficulties in proving immune system injury under,
75-76
immune system injury and, 71—72
OSHA and, 70-71
Xylenesulfonic acid, 52
Yellow Dye No. 5, 55, 63
Zirconium, hypersensitivity and, 38

Other Related OTA Reports

Neurotoxicity: Identifying and Controlling Poisons of the Nervous System—Special
Report. Describes the scope of the public health threat posed by neurotoxic substances;
Federal research, testing, monitoring, and regulatory programs to address it; and the
economic considerations associated with testing and regulatory programs. BA—436, 4/90;
350 p.

GPO stock #052-003—01184—1; $15.00 per copy

Summary—Neurotoxicity: Identifying and Controlling Poisons of the Nervous
System. BA-437, 4/90; 48 p.
GPO stock #052—003-01185-9; $2.25 per copy

Genetic Monitoring and Screening in the Workplace. Examines efficacy, accuracy, and
cost of technologies used by employers for genetic screening and monitoring; and the legal
and ethical issues pertinent to employer testing. BA-455, 10/90; 270 p.

Free summary available from OTA.

GPO stock #052-003-01217—1; $12.00 per copy

NT IS order #PB 91-105 940/AS

Identifying and Regulating Carcinogens (BP-H—42)
NTIS order #PB 88—136 999

Preventing Illness and Injury in the Workplace (H-256)
NT IS order #PB 86—115 334/AS

Assessment of Technologies for Determining Cancer Risks From the Environment
(H-138)
NTIS order #PB 81-235 400

Catching Our Breath: Next Steps for Reducing Urban Ozone. Focuses on the
health-based air quality standards for ozone; addresses the problem of regional oxidants;
evaluates the cost-effectiveness of controlling various sources of hydrocarbon emissions for
lowering ozone levels. 0-412, 7/89; 252 p.

GPO stock #052-003-01158—1; $10.00 per copy

NTIS order #PB 90—130 451/AS

Superfund Strategy. Examines future Superfund needs and how permanent cleanups can
be accomplished in a cost-effective manner for diverse types of sites; describes the
interactions among many components of the complex Superfund system; and analyzes the
consequences of pursuing different strategies for implementing the program. ITE-252, 4/85;
292 p.

Free summary available from OTA.

GPO stock #052-003-00994—3; $10.00 per copy

NTIS order #PB 86-120 425/AS

Protecting the Nation’s Groundwater From Contamination: Volume I (0-233)
NTIS order #PB 85-154 201/AS

Acid Rain and Transported Air Pollutants: Implications for Public Policy. Character-
izes the potential benefits of acting now to abate long-range transported air pollution and
the potential costs of premature action. 0-204, 6/84; 324 p.

NTIS order #PB 84—222 967/AS

MEDLARS and Health Information Policy (TM—H-l 1)
NTIS order #PB 83-168 658

NOTE: Reports are available from the US. Government Printing Office, Superintendent of Documents,

Washington, DC 20402-9325, (202) 783-3238; and/or the National Technical Information Service, 5285
Port Royal Road, Springfield, VA 22161-0001, (703) 487-4650.

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Office of Technology Assessment

The Office of Technology Assessment (OTA) was created in 1972 as an
analytical arm ofCongress. ()TA’S basic function is to help legislative policy—
makers anticipate and plan for the consequences oftechnologieal changes and
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