Two Siblings with Currarino Syndrome with 7q34 Deletion Due to Maternal t(7;14)(q34;p13)

Yildirim S., Topaloglu N., SILAN F., Kuru D.

HONG KONG JOURNAL OF PAEDIATRICS, cilt.19, sa.3, ss.181-184, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 3
  • Basım Tarihi: 2014
  • Dergi Adı: HONG KONG JOURNAL OF PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.181-184
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

Currarino syndrome is a rare but well-described form of caudal regression syndrome characterised by anorectal malformations, sacral bony defects and a presacral mass. We present two siblings with Currarino triad due to pure 7q34 deletion but different phenotypes. They had the typical spectrum of sacral agenesis, pre-sacral tumor and anorectal malformations. Interestingly, they have the same genotype but different dysmorphic characteristics. Chromosomal analysis detected that the mother was carrier. To the best of our knowledge, this is the first reported 7q34-14p translocation.