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Results: 2

Figure 2

Figure 2. Dependence of BMI on age in subjects having a deletion at 16p11.2. From: A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2.

Data are for all individuals carrying a deletion for whom phenotypic data are available. Similar data from this study only are shown in Supplementary Figures S2 and S3. Lines denote the age- and gender-corrected thresholds (solid/broken – male/female) for obesity and morbid obesity. Symbols are: Square/circle – male/female; black/grey – ascertained/not ascertained for developmental delay; filled/open – ascertained/not ascertained for obesity; diamond – first-degree relative of proband; cross – previously published data10-15. The 31 year old male with BMI ~20 kg.m−2 was diabetic based on fasting blood glucose >7 mmol/L.

R. G. Walters, et al. Nature. ;463(7281):671-675.
Figure 1

Figure 1. Identification and validation of deletions at 16p11.2. From: A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2.

(a) aCGH data showing the location of the 16p11.2 deletion. The data show the log2 intensity ratio for a deletion carrier compared to an undeleted control sample. Grey bars connected by a broken line denote the segmental duplication flanking the deletion region. Vertical bars indicate the positions of the probe pairs used for MLPA validation. Note that CGH and genotyping array probes targeted against segmental duplications may not accurately report copy number due to the increased number of homologous sequences in the diploid state. Genome coordinates are according to the hg18 build of the reference genome. (b) MLPA validation of 16p11.2 deletions. Representative MLPA results are shown, illustrating one instance of maternal transmission and two instances of de novo deletions. Genotyping data excluded the possibility of non-paternity. Full results for MLPA validation and inheritance analysis are shown in Supplementary Figure S1. Each panel shows the relative magnitude of the normalised, integrated signal at each probe location, in order of chromosomal position of the MLPA probe pairs as indicated in (a). Each panel corresponds to its respective position on the associated pedigree, as shown.

R. G. Walters, et al. Nature. ;463(7281):671-675.

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