Familial 5p- syndrome

Clin Genet. 1984 Nov;26(5):472-6. doi: 10.1111/j.1399-0004.1984.tb01091.x.

Abstract

This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter----p15.1:). Both mother and son had superficial resemblance to patients with classical Cri-du-Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, 4-5*
  • Cri-du-Chat Syndrome / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male