Document Detail


Goldenhar sequence and mosaic trisomy 22.
MedLine Citation:
PMID:  8585556     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a term infant with facioauriculo-vertebral "dysplasia" (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, + 22 (72%/28%); skin fibroblasts, 47, XY, + 22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a liveborn infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well.
Authors:
G Pridjian; W L Gill; E Shapira
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  59     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Dec 
Date Detail:
Created Date:  1996-03-19     Completed Date:  1996-03-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  411-3     Citation Subset:  IM    
Affiliation:
Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 70112, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 22*
Goldenhar Syndrome / genetics*,  physiopathology
Humans
Infant, Newborn
Male
Trisomy*

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