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.
Utine
G E
GE
Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
Thoelen
R
R
Peeters
H
H
Vermeesch
J
J
Fryns
J P
JP
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D014314:Trisomy / Q000235:genetics*