48,XXXX, A RARE ANEUPLOIDY
Kaur A1,*, Pandhi M2, Singh JR1
*Corresponding Author: Dr. Anupam Kaur, Reader, Centre for Genetic Disorders, Guru Nanak Dev University, 143005 G.T. Road, Amritsar, India; Tel.: +91-183-2258802/2258809, Ext. 3277; Fax: +91-183-2258863; University Fax: 2258820; E-mail:anupamkaur@yahoo.com
page: 65
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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.

Key words: Tetrasomy, Mental retardation, Coloboma of iris
 

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1 Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, 143005, India

2 Medical Service Provider, Rudhiana, Gurdaspur, India




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