Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).
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.
Balikova
Irina
I
Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Vermeesch
Joris Robert
JR
Fryns
Jean-Pierre
JP
Van Esch
Hilde
H
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001530:Belgium; D001987:Bronchiectasis / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic