title: Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.
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.
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin, 682041, Kerala, India.
authors.forename: Dhanya
authors.initials: D
authors.lastname: Yesodharan
authors.forename: M V
authors.initials: MV
authors.lastname: Thampi
authors.forename: Teena
authors.initials: T
authors.lastname: Koshy
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
mesh_terms: D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D002648:Child; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male