<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>in situ</italic> hybridization (FISH) in females with mental retardation and dysmorphic features.</p></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.

48, XXXX, A Rare Aneuploidy

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

Medical Service Provider, Rudhiana, Gurdaspur, India

Balkan Journal of Medical Genetics

{"article-title":"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...

48, XXXX, A Rare Aneuploidy

Pubblicato online: 09 ott 2009

Pagine: 65 - 68

DOI: https://doi.org/10.2478/v10034-009-0006-8

Parole chiave
Tetrasomy, Mental retardation, Coloboma of iris

This content is open access.

48, XXXX, A Rare Aneuploidy

Pubblicato online: 09 ott 2009

Pagine: 65 - 68

DOI: https://doi.org/10.2478/v10034-009-0006-8

Parole chiaveTetrasomy, Mental retardation, Coloboma of iris

This content is open access.

Parole chiave
Tetrasomy, Mental retardation, Coloboma of iris