4q35 deletion and 10p15 duplication associated with immunodeficiency

S Cingoz, A M Bisgaard, I Bache, T Bryndorf, M Kirchoff, W Petersen, H-H Ropers, N Maas, G Van Buggenhout, N Tommerup, Z Tümer*

*Corresponding author af dette arbejde

Abstract

We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004); Am J Med Genet Part A 131A:186-189].

OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics. Part A
Vol/bind140
Udgave nummer20
Sider (fra-til)2231-5
Antal sider5
ISSN1552-4825
DOI
StatusUdgivet - 15 okt. 2006

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