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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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
Volume155
Issue number8
DOIs
Publication statusPublished - Aug 2011

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Pilozzi-Edmonds, L., Maher, T. A., Basran, R. K., Milunsky, A., Al-Thihli, K., Braverman, N. E., & Alfares, A. (2011). Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. American Journal of Medical Genetics, Part A, 155(8), 1987-1990. https://doi.org/10.1002/ajmg.a.34094