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A deletion in chromosome 22 can cause digeorge syndrome
Authors:Albert de la Chapelle  Riitta Herva  Maila Koivisto  Pertti Aula
Institution:(1) Department of Medical Genetics, University of Helsinki, Haartmanink. 3, 00290 Helsinki 29, Finland;(2) Department of Pathology, University of Oulu, Finland;(3) Department of Pediatrics, University of Oulu, Finland;(4) Laboratory of Prenatal Genetics, University of Helsinki, Finland
Abstract:Summary An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pterrarr20q11 and monosomy 22pterrarr22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.
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