摘要:

A case of concurrent Klinefelter's and Down's syndromes in an adolescent boy is presented. Cytogenetic study confirmed double aneuploidy (48, XXY,21+). The patient had epilepsy, a feature uncommon in Down's syndrome, but more frequently seen in Klinefelter's syndrome. The EEG revealed a spike focus. Thus, the genotypic constitution has produced a phenotype with signs of both syndromes expressed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01665.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Discordance with respect to the Coldenhar syndrome is reported in twin sisters presumed to be monozygotic on the basis of placentation and blood group studies.In the development of the embryopathy, environmental factors may have played a significant role.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01666.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A 9‐year‐old boy with short stature and abnormal genitalia was found to have an XY/XYY chromosomal constitution. On physical examination, in addition to his short stature he had a shield chest and external genitalia showing a hypospadias with cryptorchidism on the left side. The right testicle was present in the scrotum. His intellectual performance was normal and there wax no history of abnormal behavior. Surgical exploration revealed in the left side a streak gonad with a vas deferens and a fallopian tube. Fluorescencc studies of interphasic nuclei and chromosomes confirmed the XY/XYY karyotype. Two hypotheses are advanced to account for this mosaic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01667.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Anthropometric data have been collected from 47, XXY men, 47, XYY men and 47, XXX women and compared with those of 46,XY men and 46,XX women in the population and in mental subnormality hospitals. Although the 47, XYY men were taller and heavier than the 46,XY men, the other measurements of body size were similar when allowance was made for the greater height. On the other hand, 47, XXY men when compared with 46, XY men had a greater mean subischid height but showed significantly smaller mean values for sitting height, span‐height ratio, biacromial diameter and androgyny score. Women with an extra X chromosome were taller than mentally subnormal 46, XX women but their height was the same as that of women in the population. Biacromial diameter and androgyny score were, however, smaller in 47, XXX women compared with 46, XX women from the population, but no difference was found comparing these variables in 47, XXX women and mentally subnormal 46,XX wome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01668.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

In 34 families the effectiveness of various methods (clinical examination, electromyography and slit lamp examination of the lens) for detecting heterozygotes for myotonic dystrophy has been assessed. In those families in which the index patient developed symptoms in infancy or childhood, most heterozygotes were recognised by early adult life. However, in the families of index patients who developed symptoms after the age of 20, the expected 50% incidence of clinically affected heterozygotes among fight degree relatives was not reached before the age of 40. Only in the early onset families may it be assumed that a relative who is clinically unaffected by age 20 years is at small risk of transmitting the disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01669.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The antenatal diagnosis of a fetus with trisomy 18 in a 41‐year‐old woman is reported. The pregnanzy was temindtcd and the diagnosis confirmed cytogenetically and morphologically. The pathological findings in the fetus are discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01670.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The present report describes the apparentlyde novoOccurrence of a D/G translocation in a libroblast cell culture initiated from a patient mosaic for trisomy 21.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01671.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01672.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1. Mitotic chromosome analysis definitely must be included in the laboratory investigations of male infertility; meiotic studies are recommended, especially in patients with a normal somatic karyo‐type and unexplained low sperm counts.2. About 10% of all patients attending male infertility clinics show a mitotic chromosome abnormality: 6–7% present a Klinefelter's syndrome or its variants, 1–3% have morphological rearrangements of the Y, or sex chromosome mosaicism, and 1–3% present structural autosome rearrangements (translocations, minor variants, etc.). Decreasing sperm counts are associated with an increasing probability of aneuploidy.3. At present, identified meiotic abnormalities could explain about 2% of male sterilkies in patients with apparently normal somatic chro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01673.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Congenital metatarsus varus is a malformation of the anterior foot which results in inward angulation. Three clinical types of the anomaly have previously been described; this report concerns type one, the most common, which shows adduction of the anterior foot, increased elevation of the longitudinal arch, concavity of the medical border and convexity of the lateral border, and neutral position of the heel. We report a family in which this type occurred in nine members of four generations; five aflected persons had other minor abnormalities of the musculoskeletal system. Earlier studies have shown metatarsus varus to be one of the polygenically determined forms of the club foot anomaly. In this family the defect appears to be due to a single gene, autosomal dominant, with full penetrance, but with variable expressivity.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01674.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY