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

dc.contributor.authorMahajan, S.
dc.contributor.authorKaur, A.
dc.contributor.authorSingh, Jai Roop
dc.date.accessioned2018-07-14T01:19:09Z
dc.date.available2018-07-14T01:19:09Z
dc.date.issued2012
dc.identifier.citationMahajan, S., Kaur, A., & Singh, J. R. (2012). Ring chromosome 22: A review of the literature and first report from India. Balkan Journal of Medical Genetics, 15(1), 55-59. doi: 10.2478/v10034-012-0009-8en_US
dc.identifier.issn13110160
dc.identifier.urihttp://kr.cup.edu.in/handle/32116/1456
dc.description.abstractRing 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.en_US
dc.language.isoen_USen_US
dc.subjectCase Reporten_US
dc.subjectChilden_US
dc.subjectChromosome Analysisen_US
dc.subjectHumanen_US
dc.subjectIndiaen_US
dc.subjectIntellectual Impairmenten_US
dc.subjectKaryotype 46,Xyen_US
dc.subjectMaleen_US
dc.subjectMicrocephalyen_US
dc.subjectMolecular Diagnosisen_US
dc.subjectPreschool Childen_US
dc.subjectReviewen_US
dc.subjectRing Chromosomeen_US
dc.subjectRing Chromosome 22en_US
dc.titleRing chromosome 22: A review of the literature and first report from Indiaen_US
dc.typeReviewen_US
dc.identifier.doi10.2478/v10034-012-0009-8
dc.identifier.urlhttps://content.sciendo.com/view/journals/bjmg/15/1/article-p55.xml
dc.title.journalBalkan Journal of Medical Genetics


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