Recurrence of Angelman syndrome in siblings: challenges in genetic counseling

Indian J Pediatr. 2014 Mar;81(3):292-5. doi: 10.1007/s12098-013-1292-4. Epub 2013 Nov 28.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome / genetics*
  • Child
  • Female
  • Genetic Counseling
  • Humans
  • Male