Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1

Utine G., Melotte C., Vermeesch J., Fryns J.

GENETIC COUNSELING, vol.16, no.4, pp.407-412, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 4
  • Publication Date: 2005
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.407-412
  • Hacettepe University Affiliated: No

Abstract

A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient. to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented.