A phenotypical male infant with 46,X,der (Y) t (X;Y) (?;p11) de novo
Govaerts, L.C.; Draaisma, J.M.; vd Blij-Philipsen, M.; Smeets, D.F.
Annales de Genetique 40(1): 41-44
1997
ISSN/ISBN: 0003-3995 PMID: 9150849 Document Number: 480006
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 (pBSX) showed that the abnormal Y-chromosome was the result of an apparently unbalanced translocation between the X and the Y chromosome. Therefore, the karyotype is 46,X,der(Y)t(X;Y)(?;p11) de novo.