Partial trisomy 11q syndrome (11q23.1 -> 11qter) due to de novot (11q;13q) detected by multicolor fluorescence in situ hybridisation

Utine G., Thoelen R., Peeters H., Vermeesch J., Fryns J.

GENETIC COUNSELING, vol.16, no.3, pp.291-295, 2005 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 3
  • Publication Date: 2005
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.291-295
  • Hacettepe University Affiliated: No

Abstract

Partial trisomy 11q syndrome (11q23.1 -> 11qter) due to de novo t(11q;13q) detected by multicolor fluorescence in situ hybridisation: In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1 -> 11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed.