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Fig. 2 | Molecular Cytogenetics

Fig. 2

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. 2

Karyotyping, aCGH and MS-MLPA results in patient 2. a. The chromosome image shows a normal pair of chromosome 15 and the extra r(15). b. The aCGH chromosome view (up) and gene view (bottom) reveal the breakpoint location and a 12.3 Mb. c. The MS-MLPA pattern shows peak height ratio value of 1.5 to 2.0 (three or four copies) in chromosome 15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). d. The MS-MLPA pattern indicates methylation aberration of 0.75 in four SNRPN recognition sites in patient 2 (bottom) in comparison with 0.5 from a normal control (upper)

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Molecular Cytogenetics

ISSN: 1755-8166