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Am J Med Genet. 2001 Aug 1;102(2):157-60.

Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY.

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Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School, Newark, New Jersey 07103, USA.


The SRY gene on the short arm of the Y chromosome is necessary for male development. Without SRY, patients with 46,XY karyotype develop as females, fail to achieve normal puberty and have dysgenic gonads and a high incidence of gonadoblastoma. Here we report a female fetus, aborted at 17 weeks of pregnancy, with a non-mosaic 46,X,del(Y)(p11.2).ish del(Y)(SRY-) karyotype diagnosed by classical cytogenetics and fluorescence in situ hybridization (FISH). Ovarian tissue was full of oocytes and mitotic figures. FISH studies of ovarian tissues with X and Y centromere probes revealed extensive sex chromosome mosaicism, manifested by loss of the Y chromosome and polysomy of the X chromosome. We propose that X chromosome polysomy is a post-zygotic event that arises to facilitate gonadal differentiation in the absence of all factors necessary for normal gonadal development.

[Indexed for MEDLINE]

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