Talk:Genetics - Chromosome 13

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Cite this page: Hill, M.A. (2019, August 23) Embryology Genetics - Chromosome 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Genetics_-_Chromosome_13

2018

Cytogenet Genome Res. 2017;153(4):175-180. doi: 10.1159/000486775. Epub 2018 Mar 9. Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. Çakmaklı S1, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG. Author information 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 PMID: 29518772 DOI: 10.1159/000486775