Document Detail


Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
MedLine Citation:
PMID:  17726694     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28.
Authors:
David J Amor; Hans-Henrik M Dahl; Melanie Bahlo; Agnes Bankier
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-01     Completed Date:  2008-01-15     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2236-41     Citation Subset:  IM    
Copyright Information:
2007 Wiley-Liss, Inc
Affiliation:
Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria, Australia. david.amor@mcri.edu.au
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Chromosome Mapping*
Chromosomes, Human, X*
Deafness / genetics
Female
Fingers / abnormalities
Genetic Diseases, X-Linked / genetics*
Humans
Infant
Linkage (Genetics)*
Male
Nose / abnormalities
Pedigree
Syndrome
Toes / abnormalities

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


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