RING CHROMOSOME 22: A REVIEW OF THE LITERATURE
AND FIRST REPORT FROM INDIA
Mahajan S, Kaur A, Singh JR
*Corresponding Author: Dr. Anupam Kaur, Department of Human Genetics, Guru Nanak Dev University,
Grand Trunk Road, Amritsar, Punjab, 143005, India; Tel.: +91-183-225-8802, Ext. 3447; Cell: +987-223-9393;
Fax: +91-183-225-8863, 225-8820; E-mail: anupamkaur@yahoo.com
page: 55
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Abstract
Ring chromosome 22 [r(22)], a rare cytogenetic
fi nding, 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 fi rst report of an r(22)
anomaly from India.
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