Document Detail


Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.
MedLine Citation:
PMID:  16114049     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Unlike the small proximal 15q deletions causing Prader-Willi and/or Angelman syndrome, distal deletions of the terminal long arm of chromosome 15 have rarely been described. To the best of our knowledge, only four patients with a pure terminal 15q deletion have been documented in the literature. We report here on an unexpected abnormal hybridization pattern for the 15q specific subtelomeric control probe (clone 154P1) of the commercial SNRPN probe in a girl referred for suspicion of Angelman syndrome. Investigation by fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones defined a partial monosomy 15q26.2 --> 15qter for a minimal critical region of approximately 5.7 Mb, which is the most distal de novo 15qter deletion reported to date. All the de novo 15qter deletion cases, including ours, presented with pre- and post-natal growth retardation related to the loss of one copy of the IGF1R gene. Based on the comparaison with the previous published cases and owing to the clinical phenotype of our patient, we define a new subtelomeric 15qter syndrome which would be characterized by intrauterine growth retardation and global post-natal growth failure, variable mental retardation, facial anomalies including relative micrognathia and triangular facies and minor malformations of the extremities including proximally placed thumbs, cubitus valgus, and brachydactyly with tappering of the digits.
Authors:
L Pinson; A Perrin; C Plouzennec; P Parent; C Metz; M Collet; M J Le Bris; N Douet-Guilbert; F Morel; M De Braekeleer
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  138A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-09-26     Completed Date:  2005-10-25     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:  160-5     Citation Subset:  IM    
Copyright Information:
(c) 2005 Wiley-Liss, Inc.
Affiliation:
Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
Female
Fingers / abnormalities
Growth Disorders / pathology
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Neck / abnormalities
Telomere / genetics

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


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