Review
Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy
Zhu Lifen, Zhang Huimin, Li Zhihua, Liu Weiqiang, Sun Xiaofang
Published 2021-11-10
Cite as Chin J Med Genet, 2021, 38(11): 1140-1144. DOI: 10.3760/cma.j.cn511374-20210303-00178
Abstract
The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.
Key words:
Uniparental disomy; Regions of homozygosity; Principle for clinical counseling
Contributor Information
Zhu Lifen
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China
Zhang Huimin
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China
Li Zhihua
Department of Prenatal Diagnostic Center, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China
Liu Weiqiang
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China
Central Laboratory, Longgang District Maternity and Child Healthcare Hospital of Shenzhen, Guangdong 518172, China
Sun Xiaofang
Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China
