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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

Fig. 2

MECP2 duplication was identified using aCGH or FISH. a Result of aCGH (Agilent 4 × 180 K) in patient III:16. It shows a clinically significant 550 kb duplication at Xq28 (chrX:153,056,054–153,606,328 in the hg19). The duplication at Xq28 region contains 24 genes, including MECP2, IRAK1, L1CAM, AVPR2, NAA10, HCFC1, etc. b Results from custom chip (Agilent 8 × 60 K) in IV:1. The ratio (log2 is between 0.5–1.2) suggests that IV:1 carried MECP2 duplication, not triplication. c The result from FISH in III:16. It shows two green signals (Xq28, MECP2 probe) and one red signal (Xq22.31, STS probe)

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BMC Medical Genetics

ISSN: 1471-2350

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