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Fig. 5 | Molecular Cytogenetics

Fig. 5

From: Family case of Potocki-Lupski syndrome

Fig. 5

Results of cytogenetic and molecular studies. a CMA plot showing the 2,9-Mb duplication of 17p11.2 region: arr[GRCh37] 17p11.2(17019267_19947934) × 3 found in mother, daughter and son. b Typical partial G-band karyotype obtained from peripheral lymphocytes of PTLS family with 450 GTG bands showing dup(17) (p11.2). f MLPA analysis of the sequences involved in a distinct subset of microdeletion and microduplication disorders (SALSA® MLPA® Probemix P245-B1 Microdeletion Syndromes-1A; MRC-Holland, Amsterdam, The Netherlands), where our patients show duplication of DRC3, LLGL1, RAI1 genes involved in PTLS formation. The same results were obtained for both studied sibs and their mother

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Molecular Cytogenetics

ISSN: 1755-8166