De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24)

Ann Genet. 1980;23(2):105-7.

Abstract

A 3 1/2 year-old severely microcephalic male is reported with a paracentric inversion in the long arm of a chromosome 14. This is the second report of nonfamilial paracentric inversion in man.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Inversion*
  • Chromosomes, Human, 13-15*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics*