Document Detail


Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.
MedLine Citation:
PMID:  9129738     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.
Authors:
D R Guillén; A Lowichik; N R Schneider; D S Cohen; S Garcia; A R Zinn
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  70     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 May 
Date Detail:
Created Date:  1997-06-26     Completed Date:  1997-06-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  32-6     Citation Subset:  IM    
Affiliation:
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235-8591, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adolescent
Chromosome Banding
Female
Fetal Death
Gene Deletion*
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Prune Belly Syndrome / genetics*
RNA, Untranslated*
Ring Chromosomes*
Transcription Factors / deficiency,  genetics*
X Chromosome*
Chemical
Reg. No./Substance:
0/RNA, Untranslated; 0/Transcription Factors; 0/X (inactive)-specific transcript (XIST)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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