An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.

نویسندگان

  • Pierre Boisseau
  • Mathilde Giraud
  • Catherine Ternisien
  • Agnès Veyradier
  • Edith Fressinaud
  • Armelle Lefrancois
  • Stéphane Bezieau
  • Marc Fouassier
چکیده

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Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.

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Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

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Case report: uniparental disomy 16 in association with congenital heart disease.

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عنوان ژورنال:
  • Haematologica

دوره 96 10  شماره 

صفحات  -

تاریخ انتشار 2011