Pediatric Clinical Genetics

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 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.