Title
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
London ,
Subject
Human medicine
Source (journal)
Journal of medical genetics. - London
Volume/pages
44(2007) :4 , p. 264-268
ISSN
0022-2593
ISI
000245350500006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
E-info
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