48, XXXX, A Rare Aneuploidy
Open Access
|Oct 2009Abstract
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.
Language: English
Page range: 65 - 68
Published on: Oct 9, 2009
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
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© 2009 A Kaur, M Pandhi, J Singh, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.