Title: Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
Authors: de Ravel, Thomy ×
Fryns, Jean-Pierre
Van Driessche, J
Vermeesch, Joris #
Issue Date: Jan-2004
Series Title: American Journal of Medical Genetics A vol:124 issue:3 pages:259-62
Abstract: 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.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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