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Fig. 3 | BMC Pediatrics

Fig. 3

From: A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

Fig. 3

The karyotype (A–C), metaphase FISH analyses (D–I) for the patient, and diagram of Y chromosome (J, K). D-F FISH signals on cell line of 46,X,idic(Y) karyotype. D SRY shown two red signals and DXZ1 shown only one green signal, respectively. E Two red DYZ3 signals revealed the inactive Y centromere and one red signal revealed the active Y centromere. F DYZ1 signal (red) presenting Yq12 heterochromatin shown minor and near the region of the Yq11.23 G-I FISH signals on cell line of 45,X karyotype. G Only one DXZ1(green) signal. H, I No DYZ3 or DYZ1 signal was observed, respectively. J Diagram of a normal Y chromosome. K Diagram of a isodicentric Y chromosome idic(Y)(q12). The breakpoint (arrow) is located in Yq12 (long arm), with a duplication of short arm, centromere, and proximal long arm and deletion of most part of Yq12 material

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