Document Detail


Molecularly defined interstitial tandem duplication 6p case with mild manifestations.
MedLine Citation:
PMID:  11746013     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An interstitial tandem duplication of 6p21.1-p22.2 was found in a girl at 11 months of age when she was evaluated for developmental delay. Previous cases reported with partial 6p duplication usually have involved terminal duplications, with breakpoints ranging from 6p11 to 6p25. Our patient exhibits a milder phenotype compared to the previously reported cases in the literature. Features that she has in common with the other cases include craniofacial anomalies, such as broad nasal bridge and bulbous tip, thin lips, incomplete development of the scapha helix bilaterally, mild spastic paraparesis of the lower extremities, gross motor delay, and mild cognitive delays.
Authors:
D Ng; P Mowrey; J Ragoussis; G Mirza; E Coll; M P Di Fazio; C Turner; S W Levin
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  103     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-12-17     Completed Date:  2002-01-31     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  320-5     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Affiliation:
Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Child
Chromosomes, Human, Pair 6 / genetics*
Female
Gene Duplication*
Humans
Karyotyping
Male
Microsatellite Repeats
Phenotype
Pregnancy
Trisomy

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


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