Cingoz S, Bisgaard A M, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers H-H, Maas N, Van Buggenhout G, Tommerup N, Tümer Z
Wilhelm Johannsen Centre for Functional Genome Research, IMBG/G, University of Copenhagen, Copenhagen, Denmark.
Am J Med Genet A. 2006 Oct 15;140(20):2231-5. doi: 10.1002/ajmg.a.31431.
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].
