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

Cakmakli S., ÇANKAYA T., Gursoy S., Koc A., Kirbiyik O., Kilicarslan O. A., ...Daha Fazla

CYTOGENETIC AND GENOME RESEARCH, cilt.153, sa.4, ss.175-180, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 153 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1159/000486775
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.175-180
  • Anahtar Kelimeler: Ambiguous genitalia, Chromosome 13, Microarray, Ring chromosome
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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. (c) 2018 S. Karger AG, Basel