A PHENOTYPICAL MALE INFANT WITH 46,X,DER(Y)T(X-Y)(P11) DE-NOVO

Authors
GOVAERTS LCP DRAAISMA JMT VANDERBLIJPHILIPSEN M SMEETS DFCM
Citation
Lcp. Govaerts et al., A PHENOTYPICAL MALE INFANT WITH 46,X,DER(Y)T(X-Y)(P11) DE-NOVO, Annales de genetique, 40(1), 1997, pp. 41-44
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
40
Issue
1
Year of publication
1997
Pages
41 - 44
Database
ISI
SICI code
0003-3995(1997)40:1<41:APMIW4>2.0.ZU;2-V
Abstract
We report on a phenotypical ''male'' dysmorphic infant with a de novo chromosomal anomaly 46,X,Yp+. Fluorescent in situ hybridisation using chromosome paints of the Y-chromosome (pBSY) and the X chromosome (pBS X) showed that the abnormal Y-chromosome was the result of an apparent ly unbalanced translocation between the X and the Y chromosome. Theref ore, the karyotype (sic).