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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Fig. 2

Insertion of an Xq22 segment including PLP1 in 1p36. a Custom PLP1 array CGH profile confirms the PLP1 gene (centered on the blue bar) duplication and precise the breakpoint of the duplicated genomic segment expanding from 102,761,000 to 103,513,000 (752 Kb of length) on Xq22 (the red arrow indicates the embedded triplicated segment). b FISH analysis with the RP11-832L2 PLP1-specific and the CEB108/T7 1p36 subtelomeric probes reveals that the additional PLP1 copy is inserted into autosome 1p36. c Sequencing of a breakpoint of the insertion of PLP1-containing segment in 1p36 chromosome reveals a two-base pair microhomology

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BMC Medical Genetics

ISSN: 1471-2350

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