Article
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
European journal of human genetics : EJHG - 1 Jul 2012
Koolen David A, Dupont Juliette, de Leeuw Nicole, Vissers Lisenka E L M, van den Heuvel Simone P A, Bradbury Alyson, Steer James, de Brouwer Arjan P M, Ten Kate Leo P, Nillesen Willy M, de Vries Bert B A, Parker Michael J
Abstract excerpt
The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be...
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