Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813790 | European Journal of Medical Genetics | 2015 | 5 Pages |
Abstract
Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of the deletion, as well as on the number and the nature of the encompassed genes. More than 100 male patients have been reported so far, while only a few cases of symptomatic female carriers have been described. We report here detailed clinical features and X chromosome inactivation analysis in two unrelated female patients with overlapping Xp21 deletions presenting with intellectual disability and inconstant muscular symptoms.
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Authors
Solveig Heide, Alexandra Afenjar, Patrick Edery, Damien Sanlaville, Boris Keren, Alexandre Rouen, Alinoƫ Lavillaureix, Capucine Hyon, Diane Doummar, Jean-Pierre Siffroi, Sandra Chantot-Bastaraud,