48, XXXX, A Rare Aneuploidy-Reference-Cited by-同舟云学术

48, XXXX, A Rare Aneuploidy

Published:2009-01-01 Issue:1 Volume:12 Page:65-68
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:
Short-container-title:

Author:

Kaur A¹,Pandhi M²,Singh J¹

Affiliation:

1. Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, 143005, India1

2. Medical Service Provider, Rudhiana, Gurdaspur, India2

Abstract

48, XXXX, A Rare AneuploidyThe 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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://content.sciendo.com/downloadpdf/journals/bjmg/12/1/article-p65.xml

Reference12 articles.

1. An XXXX sex chromosome complex in two mentally defective females;D Carr;Canadian Med Assoc J,1961

2. Chromosomal Variation in Man Online http://jws-edck.wiley.com:8096/Borgaonkar/cytocat.nsf

3. Cytogenetic investigation in mentally retarded individuals;A Kaur;Int J Hum Genet,2003

4. Sex chromosome tetrasomy and pentasomy;M Linden;Pediatrics,1995

5. Schizophrenia and sex chromosome anomalies;L Delsi;Schizophr Bull,1994

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