Indian Journal of Human Genetics
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CASE REPORT
Year : 2010  |  Volume : 16  |  Issue : 2  |  Page : 97-99

Phenotypic correlations in a patient with ring chromosome 22


Department of Medical Biology and Genetics, Faculty of Medicine, University of «ukurova, Adana, Turkey

Correspondence Address:
Osman Demirhan
Department of Medical Biology and Genetics, Faculty of Medicine, University of «ukurova, 01330 Balcali-Adana
Turkey
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DOI: 10.4103/0971-6866.69372

PMID: 21031059

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Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family. It is a case report of a patient presented at Medical Faculty of Ηukurova University in Turkey. An 8-year-old girl with ring chromosome 22 and her family were evaluated cytogenetically and clinically. A chromosome analysis of the proband revealed a de novo 46,XX,r(22)(p11.2;q13) karyotype. Our subject demonstrated the prominent features of this syndrome including profound mental retardation, language impairment, dysmorphic features, lack of speech, hyperactivity, and behavioral disorders. There is lack of consistency between the physical abnormalities that we observed in our subject and those observed for such patients in the literature. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.


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