Clinical Manifestations of 22q11.2 Deletion Syndrome
Abstract
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously...
Paper Details
Title
Clinical Manifestations of 22q11.2 Deletion Syndrome
Published Date
Jan 1, 2022
Journal
Volume
18
Issue
1
Pages
155 - 164
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