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 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46,XY,r(22). To the bes...

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Detalles Bibliográficos
Autores principales: Mahajan, S, Kaur, A, Singh, JR
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776658/
https://www.ncbi.nlm.nih.gov/pubmed/24052724
http://dx.doi.org/10.2478/v10034-012-0009-8
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author Mahajan, S
Kaur, A
Singh, JR
author_facet Mahajan, S
Kaur, A
Singh, JR
author_sort Mahajan, S
collection PubMed
description 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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spelling pubmed-37766582013-09-19 Ring Chromosome 22: A Review of the Literature and First Report from India Mahajan, S Kaur, A Singh, JR Balkan J Med Genet Case Report 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. Macedonian Science of Sciences and Arts 2012-06 2012-07-20 /pmc/articles/PMC3776658/ /pubmed/24052724 http://dx.doi.org/10.2478/v10034-012-0009-8 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Case Report
Mahajan, S
Kaur, A
Singh, JR
Ring Chromosome 22: A Review of the Literature and First Report from India
title Ring Chromosome 22: A Review of the Literature and First Report from India
title_full Ring Chromosome 22: A Review of the Literature and First Report from India
title_fullStr Ring Chromosome 22: A Review of the Literature and First Report from India
title_full_unstemmed Ring Chromosome 22: A Review of the Literature and First Report from India
title_short Ring Chromosome 22: A Review of the Literature and First Report from India
title_sort ring chromosome 22: a review of the literature and first report from india
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776658/
https://www.ncbi.nlm.nih.gov/pubmed/24052724
http://dx.doi.org/10.2478/v10034-012-0009-8
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