Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 268-270, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-879568
ABSTRACT
OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.@*METHODS@#The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.@*RESULTS@#The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.@*CONCLUSION@#CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Chromosomes humains de la paire 8
/
Aberrations des chromosomes
/
Délétion de segment de chromosome
/
Analyse sur microréseau
/
Variations de nombre de copies de segment d'ADN
/
Foetus
/
Caryotypage
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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