Ring chromosome 9 in a newborn

Aldemir O., Celik I., Karaer K., CEYLANER G.

Genetic Counseling, cilt.24, sa.4, ss.357-360, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 4
  • Basım Tarihi: 2013
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.357-360
  • Anahtar Kelimeler: Ring chromosome 9, Trigonocephaly, Hypertrichosis, IDENTIFICATION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.