Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1140-1144, 2021.
Article
em Zh
| WPRIM
| ID: wpr-922015
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Expressão Gênica
/
Guias de Prática Clínica como Assunto
/
Impressão Genômica
/
Dissomia Uniparental
/
Homozigoto
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article