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

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

Balkan Journal of Medical Genetics

Volume 15 (2012): Issue 1 (June 2012)

By: S Mahajan, A Kaur and J Singh

Open Access

|Jul 2012

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.

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