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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

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.

SUBMITTER: Menten B 

PROVIDER: S-EPMC2598049 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

Menten Björn B   Buysse Karen K   Zahir Farah F   Hellemans Jan J   Hamilton Sara J SJ   Costa Teresa T   Fagerstrom Carrie C   Anadiotis George G   Kingsbury Daniel D   McGillivray Barbara C BC   Marra Marco A MA   Friedman Jan M JM   Speleman Frank F   Mortier Geert G  

Journal of medical genetics 20070112 4

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.  ...[more]

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