Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48,XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and th
X-chromosome polysomy in the male
โ Scribed by Alice Kleczkowska; Jean-Pierre Fryns; Herman Berghe
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 761 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
โฆ Synopsis
A review of 569 male patients with X-chromosome polysomies (544 Klinefelter and 25 patients with other types of X-chromosome polysomy) is presented here. These patients were detected among the 77000 persons karyotyped in the Leuven cytogenetic center between the years 1966 and 1987. In the group of 544 Klinefelter patients special attention was paid to (1) the age at diagnosis, (2) social and marital status of the postpubertal males, (3) physical and intellectual abilities of the prepubertal boys, (4) delineation of the concurrence of Klinefelter syndrome and fragile X syndrome, and (5) the frequency of malignancies. In 25 patients with other X-chromosome polysomies (2 n _ 48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Finally, double aneuploidy and rare structural X-chromosome aberrations are briefly discussed.
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