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Identification of critical regions for clinical features of distal 10q deletion syndrome |
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| Authors: | SA Yatsenko MC Kruer PI Bader D Corzo J Schuette CE Keegan B Nowakowska S Peacock WW Cai DA Peiffer KL Gunderson Z Ou AC Chinault and SW Cheung |
| Affiliation: | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA;, Department of Pediatrics, Phoenix Children's Hospital, Phoenix, AZ, USA;, Department of Pediatrics, Maricopa Medical Center, Phoenix, AZ, USA;, Northeast Indiana Genetic Counseling Center, Parkview Hospital, Fort Wayne, IN, USA;, Division of Clinical Genetics, Boston Children's Hospital, Boston, MA, USA;, Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA;, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland;, and Illumina, Inc, San Diego, CA, USA |
| Abstract: | Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phenotype. These results have enabled us to narrow the previously proposed critical regions for the craniofacial, urogenital, and neuropsychiatric disease-related manifestations associated with distal 10q deletion syndrome. Furthermore, we propose that haploinsufficiency of the DOCK1 gene may play a crucial role in the pathogenesis of the 10q deletion syndrome. We hypothesize that alteration of DOCK1 and/or other genes involved in regulation and signaling of multiple pathways can explain the wide range of phenotypic variability between patients with similar or identical cytogenetic abnormalities. |
| Keywords: | array comparative genomic hybridization chromosome rearrangement critical region deletion 10q DOCK1 gene genotype-phenotype correlation |