Document Detail


Subtelomeric deletion of 12p: Description of a third case and review.
MedLine Citation:
PMID:  20503336     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Only 12 cases with a cytogenetically visible deletion of the short arm of chromosome 12 (12p) have been reported so far. The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome was previously suggested. Besides those 12 reports, only two patients have been described with a subtelomeric 12p deletion; both present in the same family in which the son showed a mild phenotype of moderate mental retardation and behavioral problems and his carrier mother had no apparent phenotype. In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature.
Authors:
A H Macdonald; L Rodríguez; I Aceña; M L Martínez-Fernández; D Sánchez-Izquierdo; E Zuazo; M L Martínez-Frías
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  152A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-26     Completed Date:  2010-08-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1561-6     Citation Subset:  IM    
Copyright Information:
(c) 2010 Wiley-Liss, Inc.
Affiliation:
Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. alex.mac14@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Child
Chromosome Deletion*
Chromosomes, Human, Pair 12 / genetics*
Humans
Male
Mental Retardation / genetics*
Microcephaly / genetics*
Syndrome
Telomere / genetics*

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


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