Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)

Irina Balikova; Joris Robert Vermeesch; Jean-Pierre Fryns; Hilde Van Esch

doi:10.1016/j.ejmg.2009.01.001

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)

Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. doi: 10.1016/j.ejmg.2009.01.001. Epub 2009 Jan 14.

Authors

Irina Balikova¹, Joris Robert Vermeesch, Jean-Pierre Fryns, Hilde Van Esch

Affiliation

¹ Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

PMID: 19272308
DOI: 10.1016/j.ejmg.2009.01.001

Abstract

We describe a female patient with der(2) t(2;10)(q37;q26). She presented with congenital malformations typical of a terminal 2q deletion, associated with immune deficiency leading to bronchiectasis.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Adult
Belgium
Bronchiectasis / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 2*
Female
Gene Duplication
Heterozygote
Humans
Immunologic Deficiency Syndromes / genetics*
In Situ Hybridization, Fluorescence
Karyotyping
Physical Chromosome Mapping
Translocation, Genetic*