diagnosis in genetic counselling
Last reviewed 01/2018
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.