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Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine ; : 195-200, 2010.
Artigo em Coreano | WPRIM | ID: wpr-151619
ABSTRACT
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Trissomia / Síndrome de Turner / Cromossomos Humanos Par 21 / Bandeamento Cromossômico / Hibridização in Situ Fluorescente / Síndrome de Down / Cromossomos Humanos X / Cromossomos Humanos Y / Cariotipagem / Aneuploidia Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Coreano Revista: The Korean Journal of Laboratory Medicine Ano de publicação: 2010 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Trissomia / Síndrome de Turner / Cromossomos Humanos Par 21 / Bandeamento Cromossômico / Hibridização in Situ Fluorescente / Síndrome de Down / Cromossomos Humanos X / Cromossomos Humanos Y / Cariotipagem / Aneuploidia Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Coreano Revista: The Korean Journal of Laboratory Medicine Ano de publicação: 2010 Tipo de documento: Artigo