2009•Balkan Journal of Medical GeneticsOpen access

48, XXXX, A Rare Aneuploidy

Amandeep Kaur, M Pandhi, Jai Rup Singh

Abstract

48, XXXX, A Rare Aneuploidy 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 fluorescentin situhybridization (FISH) in females with mental retardation and dysmorphic features.

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Key concepts: Aneuploidy, Tetrasomy, Fish <Actinopterygii>, Fluorescence in situ hybridization, Chromosome, Medicine, Biology, Genetics