Title: Uniparental disomy and imprinting disorders
Abstract: This chapter introduces the concepts of uniparental disomy (UPD) and imprinting disorders. It starts by presenting different types of UPD and then explains how UPD affects phenotype by illustrating the different scenarios such as those related to imprinting genes, autosomal disorders, and mosaicism. Next, the chapter describes the most common imprinting disorders including Prader-Willi/Angelman syndrome, as well as some autosomal recessive disorders that resulted from UPD. The genetic testing methods for identifying UPD and imprinting disorders are also included. By the end of the chapter, a few cases with the diagnosis of Prader-Willi/Angelman syndrome and a case with a diagnosis of Gaucher disease that resulted from paternal UPD of chromosome 1 are illustrated.
Publication Year: 2023
Publication Date: 2023-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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