Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1167-1171, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-827718
ABSTRACT
OBJECTIVE@#To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping.@*METHODS@#Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient.@*RESULTS@#The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2.@*CONCLUSION@#Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article
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