This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Diagnosis in genetic counselling

Authoring team

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.


Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.