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Mosaic double aneuploidy: Down syndrome and XYY.
Indian J Hum Genet ; 2013 July-Sept ;19 (3): 346-348
Artículo en Inglés | IMSEAR | ID: sea-156589
ABSTRACT
Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5‑year‑old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management.
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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Aberraciones Cromosómicas Sexuales / Trastornos del Desarrollo Sexual / Humanos / Masculino / Preescolar / Síndrome de Down / Cromosomas Humanos X / Cromosomas Humanos Y / Trastornos de los Cromosomas Sexuales del Desarrollo Sexual / Aneuploidia Idioma: Inglés Revista: Indian J Hum Genet Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Aberraciones Cromosómicas Sexuales / Trastornos del Desarrollo Sexual / Humanos / Masculino / Preescolar / Síndrome de Down / Cromosomas Humanos X / Cromosomas Humanos Y / Trastornos de los Cromosomas Sexuales del Desarrollo Sexual / Aneuploidia Idioma: Inglés Revista: Indian J Hum Genet Año: 2013 Tipo del documento: Artículo