PMC6114485_01
a Images of proband, b Pedigree displaying family members who carry the unbalanced der(21). Results of the mother (c) and proband (d) showing genomic microarray log2 ratio plots and partial karyotypes of chromosome 21 with the derivative (arrow), e Ideogram of chromosome 21 showing genomic regions of copy number gains in both individuals
13039_2018_394_Fig1_HTML.jpg
PMC6114485_01_13039_2018_394_Fig1_HTML.jpg
Fig1
He had deep-set eyes, down slanting palpebral fissures, prominent nasal root and tip, prominent ears, with a myopathic expression (Fig. 1a).