PMC7718637_01
Normal karyotype (46,XY) of the fetus identified by GTG banding technique.
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CMA were performed on amniotic fluid cells. Cytogenetic analysis showed a normal fetal karyotype, 46, XY (Figure 1).
(a) Chromosomal microarray analysis (CMA) array on uncultured amniocytes depicted 5q21.1q21.3 (101116629-105838444) microduplication. (b) CMA array on peripheral blood depicted 5q21.1q21.3 (101070989-105838444).
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A 4.772 Mb microduplication of 5q21.1-q21.3(arr[GRCh37] 5q21.1q21.3(101116629-105838444) x 3) was identified by the SNP array (Figure 2a). The CMA results of the mother showed a 4.767 Mb microduplication of 5q21.1-q21.3(arr[GRCh37] 5q21.1q21.3(101070989-105838444) x 3) (Figure 2b).