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XXXYY variant of Klinefelter syndrome: A case report.
Alekri, Ali; Busehail, Maryam; Rhayel, Noorhan; Almosawi, Sayed Mohamed.
Afiliação
  • Alekri A; Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain.
  • Busehail M; Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain.
  • Rhayel N; Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain.
  • Almosawi SM; Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain.
Int J Health Sci (Qassim) ; 17(3): 39-45, 2023.
Article em En | MEDLINE | ID: mdl-37151746
This case report is about a 19-month-old boy, product of an in vitro fertilization twin pregnancy and born to young non-consanguineous parents, who presented with speech and motor developmental delay. On genetic evaluation, he was found to have the exceedingly rare variant 49, XXXYY of Klinefelter syndrome. Given the rarity of this condition and the limited literature available, this case report will surely add value to the literature.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article