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Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family
Author(s) -
Colin Estelle,
Bonneau Dominique,
Boussion Francoise,
Guichet Agnès,
Delorme Benoit,
Triau Stéphane,
Gillard Phillippe,
Kitzis Alain,
Bilan Frederic
Publication year - 2012
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.3876
Subject(s) - charge syndrome , choanal atresia , coloboma , prenatal diagnosis , mutation , atresia , medicine , genetics , pediatrics , biology , anatomy , fetus , pregnancy , gene
CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family. © 2012 John Wiley & Sons, Ltd.