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Fig. 4 | Translational Neurodegeneration

Fig. 4

From: Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Fig. 4

A maternal uniparental disomy in a patient with SCAR9. a The pedigree of case 12 shows the segregation of p.R410X in ADCK3. The analysis of the repeat numbers of 21 core short tandem repeat loci in the three participants showed that the probability of the patient being the alleged parents’ biological son was 99.99%. b Uniparental disomy of chromosomes 1p and 1q detected by Affymetrix CytoScan® Dx Assay in the patient. c Schematic diagram of ADCK3 in this UPD region (1pterp36.11 and 1q42.12qter; reference human Genome Build GRCh37, UCSC Assembly hg19)

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Translational Neurodegeneration

ISSN: 2047-9158

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