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Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism
Author(s) -
PilozziEdmonds Laura,
Maher Thomas A.,
Basran Raveen K.,
Milunsky Aubrey,
AlThihli Khalid,
Braverman Nancy E.,
Alfares Ahmed
Publication year - 2011
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.34094
Subject(s) - germline , germline mosaicism , germline mutation , genetics , dizygotic twins , biology , mutation , medicine , gene , obstetrics
Aarskog–Scott syndrome is a rare X‐linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog–Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene. © 2011 Wiley‐Liss, Inc.