Document Detail

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.
MedLine Citation:
PMID:  21271659     Owner:  NLM     Status:  MEDLINE    
Translocations involving the short arms of the X and Y chromosomes are rare and can result in a functional disomy of the short arm of the X chromosome, including the dosage-sensitive sex reversal (DSS) locus. A result of such imbalance may be sex reversal with multiple congenital anomalies. We present the clinical and cytogenetic evaluation of a newborn infant with DSS and additional clinical findings of minor facial anomalies, left abdominal mass, 5th finger clinodactyly, and mild hypotonia. The external genitalia appeared to be normal female. The infant had bilateral corneal opacities and findings suggestive of anterior segment dysgenesis. Ultrasonography showed a small uterus with undetectable ovaries, and a left multicystic dysplastic kidney. High-resolution chromosome analysis identified the presence of a derivative Y chromosome, 47,XY, +der(Y)t(X;Y)(p21.1;p11.2), which was confirmed by fluorescence in situ hybridization studies. Array CGH showed a 35.1 Mb copy number gain of chromosome region Xp22.33-p21.1 and a 52.2 Mb copy number gain of Yp11.2-qter, in addition to the intact X and Y chromosomes. Previously reported patients with XY sex reversal have not had DSS with corneal opacities, dysgenesis of the anterior segment of the eye, and unilateral multicystic dysplastic kidney. These findings represent a new form of XY sex reversal due to an Xp duplication.
Yuri A Zarate; Alka Dwivedi; Frank O Bartel; Ken Corning; Barbara R Dupont
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-12-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-28     Completed Date:  2011-05-20     Revised Date:  2011-06-07    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  386-91     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Greenwood Genetic Center, Greenwood, South Carolina, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology*
Genitalia / pathology
In Situ Hybridization, Fluorescence
Microarray Analysis
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development / genetics*,  pathology*
Translocation, Genetic / genetics*

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