Relationship Between Long Arm Duplication of X Chromosome and Lysosomal Storage Disease

Demirhan O.

STEM CELL RESEARCH AND THERAPY, cilt.1, sa.1, ss.1-4, 2023 (SCI-Expanded)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.59657/cict.brs.23.003
  • Dergi Adı: STEM CELL RESEARCH AND THERAPY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1-4
  • Çukurova Üniversitesi Adresli: Evet

Özet

Abstract

Lysosomal storage disorders (LSDs) are rare genetic and clinically heterogeneous metabolic disorders. Despite years of

work on the genetic and molecular basis of these diseases, little is still known about their pathology. However, it is mostly inherited autosomal recessively, but three show X-linked inheritance. Copies of the long arm of the X chromosome are very rare, especially in males. Here, we reported a duplication of the q22.3 region of the X chromosome in a male individual in cytogenetic analysis with peripheral blood lymphocyte cultures. Our Finding shows that although the history of Xq duplications in men is limited, as confirmed in the literature review, the duplication in the current case may be associated with LSD and may be helpful to better understand the expression of X-linked traits.