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4q35 deletion and 10p15 duplication associated with immunodeficiency

MPG-Autoren
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50501

Ropers,  Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

Cingoz, S., Bisgaard, A., Bache, I., Bryndorf, T., Kirchoff, M., Petersen, W., et al. (2006). 4q35 deletion and 10p15 duplication associated with immunodeficiency. American Journal of Medical Genetics Part A, 140(20), 2231-2235. doi:10.1002/ajmg.a.31431.


Zitierlink: http://hdl.handle.net/11858/00-001M-0000-0010-83AC-4
Zusammenfassung
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