Title: 4q35 deletion and 10p15 duplication associated with immunodeficiency
Authors: Cingoz, S ×
Bisgaard, A M
Bache, I
Bryndorf, T
Kirchoff, M
Petersen, W
Ropers, H-H
Maas, Nicole
Van Buggenhout, Griet
Tommerup, N
Tümer, Z #
Issue Date: Oct-2006
Series Title: American Journal of Medical Genetics A vol:140 issue:20 pages:2231-5
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].
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Clinical Genetics
× corresponding author
# (joint) last author

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