Trisomy Xq28

Also known as: Distal duplication Xq, Telomeric duplication Xq

Definition

Orphanet

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

Go To Source: Orphanet

Other Classifiers and IDs

  • OrphaNet: ORPHA:1762
  • MeSH: C537723
  • UMLS: C3714043