Holoprosencephaly in a newborn girl with 46,XX,i(18q)

Am J Med Genet. 1991 Apr 1;39(1):11-2. doi: 10.1002/ajmg.1320390104.

Abstract

We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human / ultrastructure*
  • Consanguinity
  • Female
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn