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Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling

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

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