Diagnosis of a fetus with a de novo 16q partial trisomy syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1084-1086, 2020.
Article
in Zh
| WPRIM
| ID: wpr-827739
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing.@*METHODS@#The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotypes of both parents were normal. The fetus carried a 46,N,der(X;16)(q28;q22) unbalanced translocation. SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q. The fetus was diagnosed with 16q partial trisomy syndrome.@*CONCLUSION@#Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus.
Full text:
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Index:
WPRIM
Type of study:
Diagnostic_studies
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article