Article
Heart defects and other features of the 22q11 distal deletion syndrome.
European journal of medical genetics - 1 Feb 2013
Fagerberg Christina R, Graakjaer Jesper, Heinl Ulrike D, Ousager Lilian B, Dreyer Inken, Kirchhoff Maria, Rasmussen Anders A, Lautrup Charlotte K, Birkebaek Niels, Sorensen Keld
Abstract excerpt
22q11.2 distal deletion syndrome is distinct from the common 22q11.2 deletion syndrome and caused by microdeletions localized adjacent to the common 22q11 deletion at its telomeric end. Most distal deletions of 22q11 extend from LCR22-4 to an LCR in the range LCR22-5 to LCR22-8. We present three patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the...
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