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Monosomy 21

Disease definition

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.

ORPHA:574

  • Synonym(s):
    • 21q deletion syndrome
    • 21q- syndrome
    • Partial 21q monosomy
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.0
  • OMIM: -
  • UMLS: C0795875
  • MeSH: -
  • GARD: 10860
  • MedDRA: -

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