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


Karcaaltincaba D., CEYLANER S. , CEYLANER G. , Dalkilic S., Karli-Oguz K., Kandemr O.

Genetic Counseling, vol.21, no.1, pp.19-24, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2010
  • Title of Journal : Genetic Counseling
  • Page Numbers: pp.19-24
  • Keywords: Partial trisomy 22q, Cat eye syndrome, MRI, Array-CGH, INTERSTITIAL DUPLICATION, MICRODUPLICATION, OVERLAP, PATIENT, 22Q11.2, FISH, 22Q

Abstract

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