Article
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
American journal of medical genetics. Part A - 1 May 2021
Peter Beate, Scherer Nancy, Liang Winnie S, Pophal Stephen, Nielsen Colby, Grebe Theresa A
Abstract excerpt
The 22q11.2 deletion syndrome (22q11.2 DS) is the most common deletion syndrome in humans. In most cases, it occurs de novo. A rare family of three with 22q11.2 deletion syndrome (22q11.2 DS) resulting from an unbalanced 18q;22q translocation is reported here. Their deletion region is atypical in that it includes only 26 of the 36 genes in the minimal critical 22q11.2 DS region but it involves the loss of the...
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