Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants
Fig 2
Detection, validation and inheritance of the duplication encompassing NPY in case Ob_12 and his family.
A: Ideogram showing the location of the CNV and the specific genomic interval included in the duplication. The plot shows the results of SNP array with the Log R Ratio represented by black dots and the B Allele Frequency (BAF) represented by red dots. Hg19 assembly. B: MLPA of the trio showing the maternal inheritance of the rearrangement represented by a single probe (indicated). C: Pedigree of the family showing several cases with severe obesity, as well as ADHD (attention-deficit/hyperactivity disorder). The two individuals carrying the duplication are labeled by an *; samples from additional relatives were not available.
