TY - JOUR
T1 - Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism
AU - Pilozzi-Edmonds, Laura
AU - Maher, Thomas A.
AU - Basran, Raveen K.
AU - Milunsky, Aubrey
AU - Al-Thihli, Khalid
AU - Braverman, Nancy E.
AU - Alfares, Ahmed
PY - 2011/8
Y1 - 2011/8
N2 - 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.
AB - 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.
KW - Aarskog-Scott syndrome
KW - FGD1 gene
KW - Faciogenital dysplasia
KW - Mosaicism
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U2 - 10.1002/ajmg.a.34094
DO - 10.1002/ajmg.a.34094
M3 - Article
C2 - 21739585
AN - SCOPUS:79960554382
SN - 1552-4825
VL - 155
SP - 1987
EP - 1990
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -