Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Laura Pilozzi-Edmonds, Thomas A. Maher, Raveen K. Basran, Aubrey Milunsky, Khalid Al-Thihli, Nancy E. Braverman, Ahmed Alfares*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1987-1990
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
Publication statusPublished - Aug 2011
Externally publishedYes


  • Aarskog-Scott syndrome
  • FGD1 gene
  • Faciogenital dysplasia
  • Mosaicism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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