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Pre-PGD workup for a family with a previous child with spinal muscular atrophy. Panel (a) shows how the study of both parents and grandparents allows the phasing of the SMN mutation relative to polymorphic short tandem repeat (STR) markers; panel (b) shows the maternal and paternal haplotypes M1, M2, P1 and P2 and the distance of the STR markers from the SMN gene; panel (c) shows the four predicted fetal haplotypes. These reflect a Hardy–Weinberg equilibrium of one homozygous non-carrier, two heterozygous carriers and one that is homozygous and affected. Short tandem repeat markers linked with the SMN mutation are shown in red. DEL indicates the presense of the exon 7 (840 C>T) mutation. (Original figure legend, image based on data from Stern. PMID 26237262)
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Figure 1: Jcm-03-00280-g001.jpg
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