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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Fig. 2

Cytogenetic analysis. a Conventional cytogenetics analysis: ring chromosome 22; b FISH analysis with centromere-specific probes for chromosomes 14/22 (red) and a PCR-based probe for TBC1D22A (green) in cultured lymphocytes from the proband. The arrow indicates ring chromosome 22. C, D - FISH analysis with centromere-specific probes for chromosomes 14/22 (red) and PCR-based probes for TBC1D22A (green) in cultured skin fibroblasts from the proband. Ring chromosome 22 is designated by a white arrow (c); blue and pink arrows designate 46,XX,r(22) and 45,XX,-22 cells, respectively (d)

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