Figure 1

A combined CGH and SNP array on a 6-year old girl who was initially referred for mental problems showed 598 Mb of homozygous autosomal genome (light green blocks). This finding led to uncover the patient being conceived as the product of a brother-sister mating (first degree relatives with a coefficient of inbreeding ¼). After further studies, she had a tentative diagnosis of 2-ketoglutarate dehydrogenase deficiency, a rare autosomal recessive disease.