Document Detail

Duplication of the short arm of the X chromosome in mother and daughter.
MedLine Citation:
PMID:  8500796     Owner:  NLM     Status:  MEDLINE    
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.
C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Human genetics     Volume:  91     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-07-01     Completed Date:  1993-07-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  395-400     Citation Subset:  IM    
Department of Medical Genetics, University of South Alabama, College of Medicine, Mobile 36688.
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MeSH Terms
Chromosome Aberrations*
Chromosome Banding
DNA, Satellite / analysis
Dosage Compensation, Genetic
In Situ Hybridization, Fluorescence
Mental Retardation / genetics
Repetitive Sequences, Nucleic Acid / genetics*
Sex Chromosome Aberrations / genetics*
X Chromosome*
Reg. No./Substance:
0/DNA, Satellite

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