De novo partial trisomy 15q (proximal type)

J Med Genet. 1988 Apr;25(4):260-2. doi: 10.1136/jmg.25.4.260.

Abstract

This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 15*
  • Female
  • Genetic Markers
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Strabismus / genetics
  • Trisomy*
  • beta-N-Acetylhexosaminidases / genetics

Substances

  • Genetic Markers
  • beta-N-Acetylhexosaminidases