Document Detail


Long-term survival in a patient with del(18)(q12.2q21.1).
MedLine Citation:
PMID:  12707962     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The 18q- syndrome is relatively common among cytogenetic abnormalities occurring in approximately 1 in 40,000 live births. However, interstitial deletions involving 18q12.2 to q21.1 are much less common. Only 15 cases have been reported in the literature. A phenotypic pattern is emerging of mild dysmorphic features, mental retardation, behavior abnormalities, and the lack of serious malformations. We present a 67-year-old woman with minor dysmorphic features, moderate mental retardation, hyperphagia, and del(18)(q12.2q21.1). This patient is presented for the natural history of this deletion syndrome as well as the behavioral phenotype.
Authors:
Brad T Tinkle; Carol A Christianson; Elizabeth K Schorry; Thomas Webb; Robert J Hopkin
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  119A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-04-22     Completed Date:  2003-12-24     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:  66-70     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
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MeSH Terms
Descriptor/Qualifier:
Aged
Chromosomes, Human, Pair 18*
Cytogenetic Analysis
Female
Humans
Hyperphagia / genetics,  physiopathology
Mental Retardation / genetics,  physiopathology
Sequence Deletion* / physiology
Survival / physiology*

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