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Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes

Fig. 1

Pedigree of SMA family 7, showing the copy number of the SMN genes of each studied member and the in-phase haplotype constructed with the SMA multicopies flanking markers D5S610, D5S1556, and D5S435. It is shown that the index case grandmother’s in-phase haplotype (122, 110/114, 140) was transmitted to the two SMA asymptomatic daughters (II-3 and II-5). In the transmission to the index case and his brother (III-7 and III-8, respectively), events of double crossing over appeared independently twice. The grandfather I-1 was not available for SMN gene testing; I-2 needed a wheelchair after her 6th decade of age due to weakness of her lower limbs. II-3 and II-5 remained asymptomatic at ages 46 and 57, respectively. Their husbands II-4 and II-6 were not biologically related, the II-6 remote ancestors came from a different geographic region than that of I-1 and I-2; the geographic origin of the ancestors of II-4 was unknown. III-6 died at 4 months of age without a molecular diagnosis of SMA. III-3, III-7, and III-8 were still alive at ages 18, 30, and 34, respectively, when the study was performed

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