Search

Skip to main content Accessibility help

Home
Search

Only show content I have access to (0)

Chapters (1)

Over 3 years (1)

From year:

To year:

Apply

Medicine (1)

ring chromosome

Cambridge University Press (1)

View selected items
Save to my bookmarks
Export citations
Download PDF (zip)
Save to Kindle
Save to Dropbox
Save to Google Drive
Save content to
To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to .

To save content items to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Please be advised that item(s) you selected are not available.
You are about to save
Your Kindle email address

Please provide your Kindle email.

@free.kindle.com @kindle.com (service fees apply)

By using this service, you agree that you will only keep content for personal use, and will not openly distribute them via Dropbox, Google Drive or other file sharing services

1 results

Section 2 - Procedures used in preimplantation genetic diagnosis
Edited by Joyce Harper, University College London
Book:

Preimplantation Genetic Diagnosis

Published online:

09 November 2009

Print publication:

28 May 2009, pp 151-258
- Chapter
- - Get access
    
    Check if you have access via personal or institutional login
    
    Log in Register
- Export citation
Summary

Inherited disease may be caused at the level of the gene and the chromosome. In principle single gene mutations can lead to genetic diseases which may be distinguished on the basis of five simple modes of inheritance: autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant, and Y-linked. Myotonic dystrophy, DM1, also known as Steinert disease, is a progressive muscular dystrophy caused by the expansion in number of copies of a CTG repeat in the 3ʹ-untranslated part of the DM1 kinase gene on chromosome 19. Huntington disease is a progressive neuropsychiatric, late-onset disorder. Fragile X syndrome is a form of X-linked mental retardation caused by unstable expansion of a CGG repeat in the 5ʹ untranslated region of the FMR1 gene. Ring chromosomes are formed when genetic material is lost from both ends of a chromosome, creating an unstable situation which is resolved by the fusion of the broken ends.