Show Summary Details
Page of

Genomic Applications in Clinical Pediatrics 

Genomic Applications in Clinical Pediatrics
Chapter:
Genomic Applications in Clinical Pediatrics
Author(s):

Vinod Cherian Varghese

, Sian Morgan

, and Ian Frayling

DOI:
10.1093/med/9780199896028.003.0039
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 30 October 2020

Ever since Trisomy 21 was identified as the underlying cause of Down syndrome by Jerome Lejune in 1959 using karyotyping, an increasing number of new genetic technologies, for example FISH, have been introduced to detect chromosomal abnormalities in paediatric practice. Several multiple malformation dysmorphic syndromes have been delineated with specific structural chromosome abnormalities with loss of chromosome material (microdeletion), gain of material (micrduplication) and mosaic pattern. During the last ten years the laboratory medicine has seen an explosion in newer genetic technologies including array Comparative Genomic Hybridisation (array CGH), exome sequencing and whole genome sequencing. Several clinical case scenarios are presented to illustrate the use of these next generation genomic technologies. The clinical and genetic management in clinical pediatrics is now revolutionised with precise diagnosis and crucial information for genetic counselling, prenatal diagnosis and advising on long-term outcomes.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.