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

Utine, GE; Thoelen, R; Peeters, H; Vermeesch, J; Fryns, JP

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, sa.3, ss.291-295, 2005 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 16 Sayı: 3
Basım Tarihi: 2005
Dergi Adı: GENETIC COUNSELING
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
Sayfa Sayıları: ss.291-295
Hacettepe Üniversitesi Adresli: Hayır

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.