Article
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Cytogenetic and genome research - 1 Jan 2017
Çakmaklı Seda, Çankaya Tufan, Gürsoy Semra, Koç Altuğ, Kırbıyık Özgür, Kılıçarslan Özge A, Özer Erdener, Erçal Derya, Bozkaya Özlem G
Abstract excerpt
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material...
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