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Distal trisomy 10q

Disease definition

Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


  • Synonym(s):
    • Distal duplication 10q
    • Telomeric duplication 10q
    • Trisomy 10qter
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: -
  • UMLS: C2931728  C2931731
  • MeSH: C538087
  • GARD: -
  • MedDRA: -

Additional information

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