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Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
Author(s) -
de Ravel T.J.L.,
Fryns J.P.,
Driessche J. Van,
Vermeesch J.R.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20372
Subject(s) - girl , x chromosome , psychology , chromosome , genetics , biology , developmental psychology , gene
A girl with mental retardation and multiple minor anomalies was found to have a complex chromosome 9p re‐arrangement comprising a deleted, translocated Y chromosome, a deletion of the sex reversal gene region ( DMRT1 ) at 9p, together with an inverted duplication of the more proximal part of 9p. The karyotype was 45,X,der(Y;9)(Ypter→Yq12::9p21.1→9p22.2::9p22.2→9qter) de novo. The karyotypic male, phenotypic female had a dysgerminoma of the left dysplastic ovary. The patient had typical ‘trisomy 9p’ syndrome, and we propose that the critical region for this phenotype is located between 9p22.1 and 9p22.2. © 2003 Wiley‐Liss, Inc.