A deletion in chromosome 22 can cause digeorge syndrome
- 1 May 1981
- journal article
- case report
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 57 (3), 253-256
- https://doi.org/10.1007/bf00278938
Abstract
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter→20q11 and monosomy 22pter→22q11 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.Keywords
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