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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 16, No. 2, 2010, pp. 97-99
Bioline Code: hg10020
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 16, No. 2, 2010, pp. 97-99

 en Phenotypic correlations in a patient with ring chromosome 22
Demirhan, Osman & Tunç, Erdal


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.

Dysmorphic features, mental retardation, ring chromosome 22.

© Copyright 2010 Indian Journal of Human Genetics.
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