Document Detail


Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters.
MedLine Citation:
PMID:  9689989     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present cytogenetic and clinical findings in a familial case of dup(17)(q24q25.1). The duplication was transmitted from the mosaic mother to two non-mosaic daughters. This is the first report involving duplication of 17q24q25.1. Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, but also included brachydactyly and craniosynostosis. These findings represent additional clinical characteristics of distal 17q duplication and may indicate the presence of gene(s) involved in skeletal development in this region, duplication of which may result in a phenotype resembling Ullrich-Turner syndrome.
Authors:
D Babovic-Vuksanovic; J A Westman; S M Jalal; N M Lindor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  7     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1998 Jul 
Date Detail:
Created Date:  1998-10-15     Completed Date:  1998-10-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  171-6     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 17*
Facies
Female
Humans
Metacarpus / abnormalities*
Metatarsal Bones / abnormalities*
Mosaicism*
Comments/Corrections
Erratum In:
Clin Dysmorphol 1998 Oct;7(4):307-8

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


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