Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

Altlner Ş., KUTLAY N., İLHAN .

Cytogenetic and Genome Research, cilt.150, sa.1, ss.35-39, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 150 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1159/000452358
  • Dergi Adı: Cytogenetic and Genome Research
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.35-39
  • Anahtar Kelimeler: Cancer predisposition, Constitutional abnormality, Trisomy 8
  • Lokman Hekim Üniversitesi Adresli: Evet

Özet

Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.