Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19960906)64:4<580::AID-AJMG10>3.3.CO;2-A·
OSTI ID:518169
- Altonaer Kinderkrankenhause, Hamburg (Germany); and others
In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies. 25 refs., 1 tab.
- OSTI ID:
- 518169
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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