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
in Zh
| WPRIM
| ID: wpr-879568
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 8
/
Chromosome Aberrations
/
Chromosome Deletion
/
Microarray Analysis
/
DNA Copy Number Variations
/
Fetus
/
Karyotyping
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article