Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.

Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya

Journal: Cytogenetic and genome research 2018;153(4):175-180

PMID: 29518772

Full Text on S. Karger AG, Basel, Switzerland View on PubMed

Abstract

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 lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.

Address: Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

DOI: 10.1159/000486775