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Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Fig. 2

Ratio charts of MLPA results for children with SS using SALSA MLPA probemix P018-G1 SHOX. The spots represent MLPA probes. The upper blue line indicates a peak ratio of 1.3 and any probes (blue spot) above this line represent a duplication. The lower red line indicates a peak ratio of 0.75 and any probes (red spot) below this line represent a deletion. The probes between the two lines represent the normal two copies. a Represents complete SHOX deletion. b Represents SHOX ex5 duplication. c Represents SHOX ex6 duplication. d Represents SHOX area down duplication. e Represents ASMT, ex8 duplication. f Represents CRLF2, ex2/CSF2RA, ex4 duplication

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