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Trisomy 17p

Disease definition

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.

ORPHA:261290

Classification level: Disorder
  • Synonym(s):
    • Dup(17p)
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: C0795865
  • MeSH: -
  • GARD: 5318
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.