Mosaic double aneuploidy: Down syndrome and XYY.
Indian J Hum Genet
; 2013 July-Sept ;19 (3): 346-348
Article
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| 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.
Texte intégral:
1
Indice:
IMSEAR
Sujet Principal:
Aberrations des chromosomes sexuels
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Troubles du développement sexuel
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Humains
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Mâle
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Enfant d'âge préscolaire
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Syndrome de Down
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Chromosomes X humains
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Chromosomes Y humains
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Troubles du développement sexuel avec anomalie des gonosomes
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Aneuploïdie
langue:
En
Texte intégral:
Indian J Hum Genet
Année:
2013
Type:
Article