BMC Med Genet 2017 10 25;18(1):119. Epub 2017 Oct 25.
Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
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Am J Hum Genet 2010 Mar 4;86(3):454-61. Epub 2010 Mar 4.
Signature Genomic Laboratories, Spokane, WA 99207, USA.
Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spots in chromosome evolution and human genomic instability. We report seven individuals with microdeletions at 17q23.1q23. Read More
Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.
1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA  Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA  Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. Read More
Am J Med Genet A 2013 Feb 10;161A(2):352-9. Epub 2013 Jan 10.
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. Read More
J Child Neurol 2006 Dec;21(12):1084-5
Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy.
We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition. Read More