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- Title
Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.
- Authors
Nataf, V.; Senat, M. V.; Albert, M.; Bidat, L.; Mazancourt, P. de; Roume, J.; Allard, L.; Tessier, D. Le; Ville, Y.; Selva, J.
- Abstract
Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.
- Publication
Prenatal Diagnosis, 2002, Vol 22, Issue 8, p675
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/pd.376