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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.

ORPHA:1762

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

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