Ring chromosome 22: a review of the literature and first report from India

S Mahajan; A Kaur; J Singh

doi:10.2478/v10034-012-0009-8

Ring chromosome 22: a review of the literature and first report from India

Balkan J Med Genet. 2012 Jun;15(1):55-9. doi: 10.2478/v10034-012-0009-8.

Authors

S Mahajan¹, A Kaur, J Singh

Affiliation

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

Abstract

Ring 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.

Keywords: Intellectual disability; Ring chromosome 22 [r(22)]; Syndactyly.

Publication types

Case Reports