Document Detail

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
MedLine Citation:
PMID:  1349369     Owner:  NLM     Status:  MEDLINE    
The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.
P J Scambler; D Kelly; E Lindsay; R Williamson; R Goldberg; R Shprintzen; D I Wilson; J A Goodship; I E Cross; J Burn
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Lancet     Volume:  339     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-06-03     Completed Date:  1992-06-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1138-9     Citation Subset:  AIM; IM    
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, UK.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Cleft Palate / genetics*
Cognition Disorders / genetics*
DNA Probes
DiGeorge Syndrome / genetics*
Face / abnormalities*
Heart Defects, Congenital / genetics*
Heterozygote Detection
Reg. No./Substance:
0/DNA Probes

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