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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