Five familial cases with a trisomy 16p syndrome due to translocation

Clin Genet. 1979 Sep;16(3):205-14. doi: 10.1111/j.1399-0004.1979.tb00991.x.

Abstract

A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, 16-18*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Pregnancy
  • Syndrome
  • Translocation, Genetic*
  • Trisomy*