What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature

BACKGROUND: Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present the case of a male newborn with a unique 47,XY,+ 21[80%]/48,XY,+i(X)(q10),+ 21[2...

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Detalles Bibliográficos
Autores principales: Pinti, Eva, Lengyel, Anna, Fekete, Gyorgy, Haltrich, Iren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958764/
https://www.ncbi.nlm.nih.gov/pubmed/31931754
http://dx.doi.org/10.1186/s12887-019-1905-9

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