4q35 deletion and 10p15 duplication associated with immunodeficiency super(-)

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 pre...

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Published inAmerican journal of medical genetics. Part A Vol. 140A; no. 20; pp. 2231 - 2235
Main Authors Cingoz, S, Bisgaard, A M, Bache, I, Bryndorf, T, Kirchoff, M, Petersen, W, Ropers, H-H, Maas, N, Van Buggenhout, G, Tommerup, N, Tuemer, Z
Format Journal Article
LanguageEnglish
Published 01.01.2006
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Summary: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].
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ISSN:1552-4825
DOI:10.1002/ajmg.a.31431