Document Detail

Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
MedLine Citation:
PMID:  14708098     Owner:  NLM     Status:  MEDLINE    
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.
T J L de Ravel; J P Fryns; J Van Driessche; J R Vermeesch
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  124A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-01-06     Completed Date:  2004-07-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  259-62     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Center for Human Genetics, University of Leuven, Belgium.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Chromosome Banding
Chromosomes, Human, Pair 9 / genetics*
Chromosomes, Human, Y / genetics*
In Situ Hybridization, Fluorescence
Mental Retardation / pathology*
Sex Reversal, Gonadal*
Translocation, Genetic*

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