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, cilt.16, ss.291-295, 2005 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 16 Konu: 3
  • Basım Tarihi: 2005
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.291-295

Özet

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.