Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism

Am J Med Genet. 1989 Feb;32(2):178-81. doi: 10.1002/ajmg.1320320207.

Abstract

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11*
  • Ear, External / abnormalities*
  • Eye Abnormalities
  • Humans
  • Hydrocephalus / genetics
  • Hypospadias / genetics*
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Nose / abnormalities
  • Syndrome