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Discordance for Schimmelpenning–Feuerstein–Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation
Author(s) -
RijntjesJacobs Esther G.J.,
Lopriore Enrico,
Steggerda Sylke J.,
Kant Sarina G.,
Walther Frans J.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33635
Subject(s) - craniofacial , genetics , mutation , biology , gene
The Schimmelpenning–Feuerstein–Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. © 2010 Wiley‐Liss, Inc.