Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies

Genet Couns. 2010;21(1):19-24.

Abstract

We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Arachnoid Cysts
  • Brain / abnormalities*
  • Chromosomes, Human, Pair 22*
  • Comparative Genomic Hybridization
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Fatal Outcome
  • Female
  • Gene Duplication*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome
  • Trisomy / diagnosis
  • Trisomy / genetics*