Bertil Hall

Mongolism and Other Abnormalities in a Family with Trisomy 21–22 Tendency

An example of trisomy 21–22, idiocy and some malformations is described and compared with the other non‐mongoloid trisomies 21–22. The difficulty is discussed of making a correct morphological identification of the chromosome in the smallest chromosome group. The present patient resembles two previously reported non‐twin sisters, both having an extra chromosome similar to, although not quite identical with, the chromosomes in group 21–22. In the present patients family, there has also been more than one instance of trisomy. A hypothetical explanation of a non‐disjunction tendency in families with supposed translocations and in families with normal karoytypes is given.

An inherited chromosome aberration in a girl with signs of de Lange syndrome.

A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed.

Variability in mongolism ‐a comparison of the hand skeleton in mongoloids and normals

It is still not known how deviations in the chromosomal constitution in man influence the fetal and postnatal development processes. More knowledge about the clinical variability between individuals and the degree of instability in different organ systems in human chromosomal syndromes would be of value. For many reasons, mongolism is one of the best syndromes for such investigations. The present paper reports on the variability and instability in newborn and older mongoloids, some of whom are part of a follow‐up study.

SOMATIC DEVIATIONS IN NEWBORN AND OLDER MONGOLOID CHILDREN: A Follow‐up Investigation

We know that the most characteristic features (the cardinal signs) of newborn (1) and older mongoloid children (2) are not identical, but it is not clear how and when the various signs change. The approach to this problem can best be made by investigating a random material of mongoloid children. This investigation should then be followed up for many years. Because many mongoloid children die in infancy, the material must be collected during the newborn period. No such investigation has been reported earlier. A limiting factor has been the difficulty in diagnosing mongolism in some of the mongoloid newborns, which mainly depends on the large variation that exists. This limiting factor vanished when the development of the cytogenetic analysis increased the diagnostic possibilities. This article gives an account of a material of newborn mongoloid children who were investigated several times up to the age of 6 years.

A Case of Testicular Feminization with Chromosome Mosaicism

Patients with the testicular feminization syndrome are phenotypically females with female external genitalia, a short vagina that ends blindly, lack of uterus and scanty sexual hair. The vagina may be completely absent. The gonads are immature testes; they may be intra-abdominal, situated along the course of the inguinal canal or in the labia majora. The cells lining the tubules are spermatogonia and Sertoli cells (Gordon et al., 19641, but spermatogenesis is rare. The Leydig cells may be absent in some areas of the gonads, but in others they may be grouped into adenomatous formations. Hormonal studies usually show normal female or male or sometimes elevated urinary 17ketosteroids and normal male or female levels of urinary estrogens. After castration the estrogen and ketosteroid values decrease and the gonadotrophins increase. This indicates that the gonads are an important hormone producer in these cases. Excellent reviews of the syndrome are given by e. g. Jon, s and Scott (1958); Netter et at. (1958); Hauser C1961); Molinoff and Armstrong (1962); Decourt and Guinet (1962), and Henrion (1963). The syndrome is hereditary; either an X-linked recessive gene or a sex-limited autosomal dominant gene is involved (cf. Philip and Sele, 1965). The sex chromosome complement is usually XY (e. g. Hauser, 1961; Morris and Mahesh, 1963;

AN INHERITED B/C TRANSLOCATION IN A DYSPLASTIC GIRL WITH PARTIAL C TRISOMY

A new case of partial C trisomy with many signs encountered in other chromosomal syndromes is reported. The dermatoglyphic findings on the finger tips are discussed.

Trisomy-G-normal mosaicism in a mentally retarded girl with some dysplastic features.

The effect of trisomy-G/normal mosaicism is not quite clear. Some mosaic individuals are similar to a mongoloid patient and others are quite normal; the latter has been the case with a few mothers of mongoloid children (5). In view of this variability we thought it of interest to report a case which differs from most of the earlier cases. Our case seemed also to accord with the experiences of Kohn et a]. ( 3 ) that mental prognosis is not much better for mosaic dysplastic cases than for pure trisomy G mongoloids.

A Dysplastic Girl with an Inherited Partial C Trisomy

A dysplastic girl with a partial C trisomy is described. Signs met with in other chromosome syndromes are also discussed. The partial C trisomy is caused by a familial C/C translocation. The mother of the proposita had five spontaneous abortions.