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

G E Utine; R Thoelen; H Peeters; J Vermeesch; J P Fryns

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

Genet Couns. 2005;16(3):291-5.

Authors

G E Utine¹, R Thoelen, H Peeters, J Vermeesch, J P Fryns

Affiliation

¹ Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.

PMID: 16259326

Abstract

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.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 11 / genetics*
Developmental Disabilities / complications
Developmental Disabilities / genetics
Female
Growth Disorders / complications
Growth Disorders / genetics
Humans
In Situ Hybridization, Fluorescence / methods*
Infant
Karyotyping
Polymerase Chain Reaction
Trisomy / genetics*