First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

YALÇINTEPE S., Zhuri D., Sezginer Guler H., ATLI E., DEMİR S., ATLI E. İ., ...Daha Fazla

Molecular Syndromology, cilt.13, sa.3, ss.235-239, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 3
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1159/000519149
  • Dergi Adı: Molecular Syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.235-239
  • Anahtar Kelimeler: Array-CGH, Congenital heart disease, Deletion 11q, Dextrocardia, Jacobsen syndrome
  • Trakya Üniversitesi Adresli: Evet

Özet

Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.