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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Fig. 1

Karyotyping, FISH, aCGH and MS-MLPA results in patient 1. a. The chromosome image shows a normal pair of chromosome 15 and the extra idic(15). b. Metaphase and interphase FISH results show two copies of the SNRPN gene in the idic(15) (SNRPN red, 15qter green). c. The aCGH chromosome view (up) and gene view (bottom) reveal the breakpoint location and a 7.7 Mb duplication. d. The MS–MLPA pattern shows a peak height ratio value of 2 (four copies) in chromosome 15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). e. The MS-MLPA pattern indicates a methylation percentage of 0.75 in four SNRPN recognition sites in patient 1 (bottom) in comparison of 0.5 from a normal control (upper)

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