Prenatal diagnosis and genetic counseling of uniparental disomy.
Genetic counseling
Prenatal diagnosis
Uniparental disomy
Journal
Taiwanese journal of obstetrics & gynecology
ISSN: 1875-6263
Titre abrégé: Taiwan J Obstet Gynecol
Pays: China (Republic : 1949- )
ID NLM: 101213819
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
accepted:
02
11
2021
entrez:
1
4
2022
pubmed:
2
4
2022
medline:
5
4
2022
Statut:
ppublish
Résumé
Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent. Most chromosomes involving UPD have no pathogenic effects. However, abnormal phenotypes in cases with UPD can be mainly caused by disrupting genetic imprinting and by uncovering harmful autosomal recessive mutations. The documented phenotypes of UPD associated with imprinted genes include maternal UPD for chromosomes 7, 11, 14, 15, 16, and 20, and paternal UPD for chromosomes 6, 11, 14, 15, and 20. Prenatal awareness of UPD is important to provide accurate genetic counseling and prenatal UPD test is suggested when abnormal fetal ultrasound with suspicious phenotypes for UPD syndromes caused by genetic imprinting disorders or presence of chromosomal aberrations involving the imprinted chromosomes.
Identifiants
pubmed: 35361378
pii: S1028-4559(22)00006-7
doi: 10.1016/j.tjog.2022.02.006
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
210-215Informations de copyright
Copyright © 2022. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors have declared no conflict of interest.