Document Detail


Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
MedLine Citation:
PMID:  15822126     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Deletions of the 1q telomere have been reported in several studies screening for subtelomeric rearrangements. However, an adequate clinical description is available from only a few patients. We provide a clinical description of a patient with a subtelomeric deletion of chromosome 1q, previously detected by us in a screening study. Comparison of the clinical presentation of our patient with rare cases reported previously provides further evidence for a specific phenotype of 1q patients, including mental retardation, growth retardation, sometimes with prenatal onset, progressive microcephaly, seizures, hand and foot abnormalities and a variety of midline defects, including corpus callosum, cardiac, genital and gastro-esophageal abnormalities. This clinical presentation is reminiscent of that of patients with larger, microscopically visible deletions of chromosome 1q (>3 Mb) characterized by growth and mental retardation, coarse faces with thin upper lip, epilepsy, and variable other anomalies. In addition, the breakpoint region was mapped to a 26 kb region within the RGS7 gene. Among the 17 known genes in the candidate region, are zinc-finger genes. Other members of this gene family have been implicated in different forms of mental retardation.
Authors:
Yolande van Bever; Liesbeth Rooms; Annick Laridon; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; R Frank Kooy
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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:  135     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-26     Completed Date:  2005-05-31     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  91-5     Citation Subset:  IM    
Copyright Information:
(c) 2005 Wiley-Liss, Inc.
Affiliation:
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 1 / genetics*
Growth Disorders / pathology
Humans
Infant
Karyotyping
Male
Mental Retardation / pathology*
Microcephaly / pathology
Phenotype
Telomere / genetics*

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


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