Pediatric Clinical Genetics

  • Andrew J. GreenEmail author
  • James J. O’Byrne
Reference work entry


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 is 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.


Chromosome disorders Single-gene disorders Karyotype Microarray Next-generation sequencing 

Further Reading

  1. OMIM, Online Mendelian Inheritance in Man – a database of human genes and genetic disorders developed by staff at Johns Hopkins
  2. 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
  3. Contact a Family – a UK charity for families with disabled children, which offers information on specific conditions and rare disorders.
  4. Understanding Gene testing (n.d.) – a website with information on basic genetic concepts, and the utility and limitations of genetic testing

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Department of Clinical GeneticsOur Lady’s HospitalCrumlin, DublinIreland
  2. 2.School of Medicine and Medical ScienceUniversity College DublinBelfield, DublinIreland

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