Article
5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
American journal of medical genetics. Part A - 1 Dec 2021
Bayat Allan, Bayat Michael, Broers Chantal, Polstra Abeltje M, Zwijnenburg Petra J G, Hjortshøj Tina Duelund
Abstract excerpt
Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present...
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