Orphanet: Trisomy Xq28

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Trisomy Xq28

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Distal duplication Xq
    • Telomeric duplication Xq
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q99.8
  • OMIM: 300260  300815
  • UMLS: C1846058  C3714043
  • MeSH: C537723
  • GARD: 9781
  • MedDRA: -

Detailed information

Article for general public


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