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Chromosome 22
 
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shaun

Shaun, Mosaic Trisomy 22

james

James, Mosaic Trisomy 22

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Mosaic Trisomy 22

Mosaic trisomy 22 is a rare chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The severity of the disorder can depend on the number of cells in which the extra chromosome 22 is present.

CLINICAL FEATURES MAY INCLUDE:

  • microcephaly
  • abnormal ears
  • webbed neck
  • cadiac abnormalities
  • long fingers
  • kidney problems (missing, extra, or underdeveloped kidneys)
  • growth retardation
  • shortened limbs
  • mental delay
  • hemidystrophy (abnormal development of each side of the body
  • drooping eyelids
  • elbow malformations
  • abnormal or/missing finger/toe nails
  • absent ovaries/fallopian tubes
  • undeveloped testes or ovaries

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