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AttributesValues
type
sameAs
notation
  • C16.131.077.327
  • C16.131.260.260
  • C16.320.180.260
  • C10.597.606.360.220
alternative label
  • Mongolisme
  • 47,XY,+21
  • Down Syndrome
  • Down Syndrome, Partial Trisomy 21
  • Partial Trisomy 21 Down Syndrome
  • Syndrome, Down
  • Trisomie 21
  • Trisomie 21 par non-disjonction mitotique
  • Trisomy G
  • 47,XX,+21
  • Down's Syndrome
  • Downs Syndrome
  • Mongolism
  • Syndrome de Down avec trisomie 21 partielle
  • Syndrome, Down's
  • Trisomie 21 par non-disjonction méiotique
  • Trisomy 21
  • Trisomy 21, Meiotic Nondisjunction
  • Trisomy 21, Mitotic Nondisjunction
preferred label
  • Syndrome de Down
is in scheme
note
  • A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
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