48, XXXX, A Rare Aneuploidy

Kaur, A; Pandhi, M; Singh, J

doi:10.2478/v10034-009-0006-8

Abstract

The 48, XXXX chromosome constitution is a rare aneuploidy which shows some peculiar manifestations in affected females. This first report from India of tetrasomy X with bilateral, typical, complete coloboma of iris, shows the importance of chromosomal investigation and fluorescent in situ hybridization (FISH) in females with mental retardation and dysmorphic features.

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48, XXXX, A Rare Aneuploidy

Abstract

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