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Background: Chromosome 8 belongs to the C group of medium-sized sub-centromere chromosomes. Complete trisomy of 8 most often results in aborted embryos or spontaneous abortion. Chimeric trisomy 8 is a rare autosomal abnormality with high phenotypic heterogeneity.
Methods: Peripheral blood DNA was extracted by magnetic bead method, and CNV-seq was performed with MGISEQ-2000 sequencer to analyze chromosome copy number variation (CNVs) in chromosome aneuploidy and those with more than 100 Kb.
Results: The test result for the pregnant woman was sseq[GRCh37]8p12q11.21(32608173 48839569)x3 [0.77]chr8:g.32608173 48839569dup. The copy number variant type was pathogenic, and the fragment size was 16.23 Mb.
Conclusions: This study suggests that 8p12q11.21 chimeric duplication carriers may have normal phenotype and reproductive function, which should be considered in genetic counseling, especially prenatal counseling.
DOI: 10.7754/Clin.Lab.2025.250154
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