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Diagnosis in genetic counselling

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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If a major chromosomal abnormality exists, then a recognisable syndrome of two or more dysmorphic features will usually be present. Chromosomal analysis should be carried out, especially if there are other indicative factors:

  • unexplained mental retardation
  • known family history of structural chromosomal problem
  • unexplained stillbirth in family
  • female with unexplained short stature
  • recurrent miscarriages
  • infertility in proband
  • ambiguous sexual development

If only single gene disorders or single dysmorphic features exist, then chromosomal analysis is not indicated.


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