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4q35 deletion and 10p15 duplication associated with immunodeficiency

American Journal of Medical Genetics, Part A, ISSN: 1552-4825, Vol: 140, Issue: 20, Page: 2231-2235
2006
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Article Description

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]. © 2006 Wiley-Liss, Inc.

Bibliographic Details

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

Wiley

Biochemistry, Genetics and Molecular Biology; Medicine

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