Cri du chat-syndrome in combination with partial trisomy 9 p

Padiatr Padol. 1986;21(1):61-7.

Abstract

A partial monosomy 5p leading to the Cri du chat-Syndrome combined with a partial trisomy 9p was observed in a mentally defective boy with typical clinical features for both syndromes. This chromosomal aberration is inherited from a t [5; 9] (p. 13.3; 13.1) translocation carrier father. Further family investigations showed many balanced translocation carriers through several generations.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations / genetics
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X*
  • Cri-du-Chat Syndrome / genetics*
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Translocation, Genetic
  • Trisomy*