Abstract
The primary aim of this chapter is to introduce the pediatric surgeon to the fundamental concepts of clinical genetics and equip him/her with the basic genetic terminology and tools to manage some of the malformation syndromes commonly encountered in surgical practice, particularly during the newborn period. A clinical genetic approach to diagnosis, etiology, and inheritance patterns of malformation syndromes are outlined. Genetic investigations, often employed to help unearth a diagnosis including chromosomal G-banding analysis/standard karyotyping, fluorescent in situ hybridization, and array comparative genomic hybridization analysis/chromosomal microarray are described and discussed in detail along with single-gene tests and the development of next-generation sequencing and gene panels.
Further Reading
OMIM, Online Mendelian Inheritance in Man – a database of human genes and genetic disorders developed by staff at Johns Hopkins www.ncbi.nlm.nih.gov/Omim/
Orphanet – a database (in several languages) of genetic disorders, clinical information, clinic listings and research and diagnostic genetic testing for a wide range of disorders www.orpha.net
Contact a Family – a UK charity for families with disabled children, which offers information on specific conditions and rare disorders. www.cafamily.org.uk
Understanding Gene testing (n.d.) – a website with information on basic genetic concepts, and the utility and limitations of genetic testing http://www.accessexcellence.org/AE/AEPC/NIH/
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© 2019 Springer-Verlag GmbH Germany, part of Springer Nature
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Green, A.J., O’Byrne, J.J. (2019). Pediatric Clinical Genetics. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_10-2
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DOI: https://doi.org/10.1007/978-3-642-38482-0_10-2
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Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-38482-0
Online ISBN: 978-3-642-38482-0
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Latest
Pediatric Clinical Genetics- Published:
- 24 December 2018
DOI: https://doi.org/10.1007/978-3-642-38482-0_10-2
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Original
Pediatric Clinical Genetics- Published:
- 06 March 2017
DOI: https://doi.org/10.1007/978-3-642-38482-0_10-1