Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone dysplasia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect.@*METHODS@#Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result.@*RESULTS@#Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication.@*CONCLUSION@#Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.