Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 3.

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Fig. 3. Genetic testing results. (A) High-resolution chromosome study showed an additional small metacentric marker chromosome. (B) Multiplex ligation-dependent probe amplification results (SALSA P070 subtelomeric probemix) indicated duplication of the 18p11.32 region. (C) Fluorescence in situ hybridization using CEP 18 (D18Z1) SpectrumOrange probe showed that monocentric marker chromosome was of chromosome 18 origin. Results summary: 47, XX, +mar.ish i(18)(p10)(D18Z1+).
Journal of Genetic Medicine 2021;18:105-9
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