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Publisher : Indian Journal of Pediatrics
Campus : Coimbatore
School : School of Business
Year : 2013
Abstract : pThe authors report a rare occurrence of two siblings with Angelman syndrome. Their karyotype revealed monosomy of chromosome 15 and a derivative chromosome 1 leading to Angelman syndrome. Their mother was a balanced translocation carrier involving chromosomes 1p and 15p. In her subsequent pregnancy, prenatal karyotype analysis was offered and the fetus was unaffected. © 2013 Dr. K C Chaudhuri Foundation./p