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Hum Genet. 1981;57(3):253-6.

A deletion in chromosome 22 can cause DiGeorge syndrome.

Abstract

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings 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.

PMID:
7250965
DOI:
10.1007/bf00278938
[Indexed for MEDLINE]

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