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Figure 4 | BMC Medical Genetics

Figure 4

From: Development and validation of a multiplex-PCR assay for X-linked intellectual disability

Figure 4

Examples of test group results. Multiplex-PCR assay focusing the analysis of the mutational hotspot of FMR1 CGG alleles (blue label), AFF2 CCG alleles (green label) and of the ARX ex2p (380 bp green fragment). Profiles: (a) AFF2 premutation male (68 CCGs); (b) and (c) male samples where the karyotype revealed the presence of an extra X-chromosome (47, XXY). Additionally in (c) an FMR1 full mutation was subsequently identified by Southern blotting. Profiles: (d) Heterozygous ARX exon 2 deletion female; (e) and (f): FMR1 premutation alleles, male (58 CGGs) and female [(CGG)47/(CGG)61]. Both FMR1 (d) and AFF2 (f) alleles differing in size by a single triplet can be easily distinguished.

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