BMC Med Genet 2017 10 23;18(1):118. Epub 2017 Oct 23.
Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
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Mol Cytogenet 2015 23;8:99. Epub 2015 Dec 23.
Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120, Guangdong China.
Background: Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. Read More
Am J Med Genet A 2016 Mar 8;170(3):712-6. Epub 2015 Dec 8.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.
The 16p12 region is particularly prone to genomic disorders due to the large number of low copy repeats [Martin et al., 2004; Nature 432:988-994]. We report two unrelated patients with de novo triplication of 16p12. Read More
Am J Med Genet A 2004 Jul;128A(1):85-92
Institute of Human Genetics, Charité, Humboldt University Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany.
We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with subtle or submicroscopic 7q36 deletions either of de novo origin or resulting from a cryptic parental translocation. Fluorescence in situ hybridization (FISH) studies indicated that in all four patients, the Sonic Hedgehog gene (SHH) and the homeobox gene HLXB9, among others, are comprised in the deletions. Besides mental retardation and short stature, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the Currarino syndrome. Read More
Am J Med Genet A 2015 Jan 24;167A(1):198-203. Epub 2014 Sep 24.
Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13-year-old boy with 7q terminal deletion syndrome, a 6. Read More