Ring Chromosome 22: A Review of the Literature and First Report from India-Reference-Cited by-同舟云学术

Ring Chromosome 22: A Review of the Literature and First Report from India

Published:2012-01-01 Issue:1 Volume:15 Page:55-59
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:
Short-container-title:

Author:

Mahajan S¹,Kaur A²,Singh J³

Affiliation:

1. Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Dehli 110060, India1

2. Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab 143005, India2

3. Central University of Punjab, D-13, Civil Station, Bathinda, Punjab 151001, India3

Abstract

Ring Chromosome 22: A Review of the Literature and First Report from IndiaRing chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46, XY, r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://content.sciendo.com/downloadpdf/journals/bjmg/15/1/article-p55.xml

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