TY - JOUR T1 - Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 JF - Journal of Medical Genetics JO - J Med Genet SP - 264 LP - 268 DO - 10.1136/jmg.2006.047860 VL - 44 IS - 4 AU - Björn Menten AU - Karen Buysse AU - Farah Zahir AU - Jan Hellemans AU - Sara J Hamilton AU - Teresa Costa AU - Carrie Fagerstrom AU - George Anadiotis AU - Daniel Kingsbury AU - Barbara C McGillivray AU - Marco A Marra AU - Jan M Friedman AU - Frank Speleman AU - Geert Mortier Y1 - 2007/04/01 UR - http://jmg.bmj.com/content/44/4/264.abstract N2 - 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. ER -