<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

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

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

Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab 143005, India

Central University of Punjab, D-13, Civil Station, Bathinda, Punjab 151001, India

Balkan Journal of Medical Genetics

{"article-title":"Ring Chromosome 22: A Review of the Literature and First Report from India"}

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...

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

Pubblicato online: 20 lug 2012

Pagine: 55 - 59

DOI: https://doi.org/10.2478/v10034-012-0009-8

Parole chiave
Ring chromosome 22 [r(22)], Syndactyly, Intellectual disability

This content is open access.

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

Pubblicato online: 20 lug 2012

Pagine: 55 - 59

DOI: https://doi.org/10.2478/v10034-012-0009-8

Parole chiaveRing chromosome 22 [r(22)], Syndactyly, Intellectual disability

This content is open access.

Parole chiave
Ring chromosome 22 [r(22)], Syndactyly, Intellectual disability