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

doi:10.1159/000486775

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

Cytogenet Genome Res. 2017;153(4):175-180. doi: 10.1159/000486775. Epub 2018 Mar 9.

Authors

Seda Çakmaklı¹, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya

Affiliation

¹ Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

PMID: 29518772
DOI: 10.1159/000486775

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.

Keywords: Ambiguous genitalia; Chromosome 13; Microarray; Ring chromosome.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Agenesis of Corpus Callosum / genetics*
Astigmatism / genetics
Chromosome Disorders / genetics*
Chromosome Disorders / pathology
Chromosomes, Human, Pair 13 / genetics
Chromosomes, Human, Pair 13 / ultrastructure
Comparative Genomic Hybridization
Fatal Outcome
Female
Fetal Growth Retardation / genetics
Hearing Loss, Bilateral / genetics
Hearing Loss, Sensorineural / genetics
Heart Defects, Congenital / genetics*
Humans
Infant
Infant, Newborn
Language Development Disorders / genetics
Microcephaly / genetics*
Phenotype
Polyhydramnios / etiology
Pregnancy
Ring Chromosomes
Tissue Array Analysis

Supplementary concepts

Chromosome 13 ring