This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Genetics

Authoring team

Turner's syndrome is the result of a sporadic chromosomal abnormality. It can result from the non-disjunction of chromosomes in either parent. Over 99% of 45X0 fetuses abort. The risk of recurrence is low.

A minority of individuals are mosaics 45X0/46XX, or more rarely 45XO/45XY.

Turner's syndrome is the only viable monosomy in humans. This is probably because in normal females one copy of the X chromosome in each cell is functionally inactivated in a process called Lyonisation - leading to formation of the Barr body, the absence of which is a diagnostic feature in Turner's. Thus the normal situation in a cell is to have just one functional X chromosome; it is only in certain tissues that the loss matters.


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.