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Genomic Applications in Clinical Pediatrics 

Genomic Applications in Clinical Pediatrics
Genomic Applications in Clinical Pediatrics

Vinod Cherian Varghese

, Sian Morgan

, and Ian Frayling

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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.

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