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Chapter 34 - Single-Gene and Chromosome Abnormalities

Published online by Cambridge University Press:  27 July 2023

By
Sahar Mansour
Edited by
Asma Khalil  and
Anthony Griffiths
Asma Khalil
Affiliation:
St George's University of London
Anthony Griffiths
Affiliation:
University Hospital of Wales, Cardiff
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Summary

Chromosomes are thread-like structures located in the nucleus of almost every cell. They are made up of deoxyribonucleic acid (DNA). Less than 2% of human DNA codes for specific genes which transcribes into RNA, and many are then translated into amino acids and proteins (Fig. 34.1)

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Chapter
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Part 1 MRCOG Synoptic Revision Guide , pp. 324 - 336
Publisher: Cambridge University Press
Print publication year: 2023

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References

Wapner, , et al., Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012; 367:2175–2184Google Scholar
The Unique Rare Chromosomal Disorders Support Group provides a number of helpful, informative and accurate leaflets: www.rarechromo.co.uk/html/home.aspGoogle Scholar
Robertsonian translocations leaflet: www.rarechromo.org/information/Other/Robertsonian%20Translocations%20FTNW.pdfGoogle Scholar
Array CGH leaflet:www.rarechromo.org/information/Other/Array%20CGH%20FTNW.pdfGoogle Scholar
FutureLearn runs a MOOC (Massive Online Open Course) on ‘The Genomics Era: The Future of Genetics in Medicine’: www.futurelearn.com/courses/the-genomics-era/3/registerGoogle Scholar

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