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.