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Results: 2

1.
Figure 1

Figure 1. Hereditary spastic paraparesis family pedigree. From: Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Pedigree showing the two affected sisters (877781, 789865) and 10 family controls (asterisk).

K.G. Meilleur, et al. Neurogenetics. ;11(3):313-318.
2.
Figure 2

Figure 2. Homozygosity mapping results. From: Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Large homozygous region shared in two affected family members only on chromosome 19. The three panels show results for patients 789865 (older affected sister) and 877781 (younger affected sister) and a 38 year old unaffected brother. The upper horizontal blue band in each panel represents heterozygous calls of two-allele SNPs across chromosome 19 (B allele frequency). Red arrows indicate the region of extended homozygosity (no heterozygous calls) present only in the affected sisters. The lower horizontal blue band in each panel represents DNA copy number (Log R ratio), which was normal.

K.G. Meilleur, et al. Neurogenetics. ;11(3):313-318.

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