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Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling |
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| Authors: | Dhanya Yesodharan M. V. Thampi Teena Koshy Sheela Nampoothiri |
| Affiliation: | 1. Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin, 682041, Kerala, India 2. Department of Human Cytogenetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin, Kerala, India 3. Department of Human Genetics, Sri Ramachandra University, Porur, Chennai, India |
| Abstract: | The 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. |
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