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Egyptian Journal of Medical Human Genetics
Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

Fig. 2

Analysis of SMA patient with type III showing heterozygous deletion of exons 7 and 8 of SMN1 gene, and expected heterozygous deletion of exons 1–6 of SMN1 gene. A MLPA analysis showing median value of 0.755 for the 10 probes detecting exon 1–6 of both SMN1 and SMN2 genes (3 copies) and median values of exons 7 and 8 of SMN1 gene and SMN2 gene between 0.52–0.63 (1 copy of each). B Expected distributions of SMN1 & SMN2 genes exons showing (a) heterozygous deletion of the whole SMN1 gene from one allele, which doesn’t explain the phenotype, (b) heterozygous deletion of exons 7 & 8 of SMN1 gene from one allele and heterozygous deletion of exons 1–6 from the other allele, which could be pathogenic for SMA., (c &d) heterozygous deletion of exons 1–6 of SMN2 gene

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