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.
KeywordsChromosome disorders Single-gene disorders Karyotype Microarray Next-generation sequencing
- 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/