PMC4924281_01
Face of the patient showing mild facial dysmorphic features and his family pedigree. Standard pedigree symbols are used; dup, duplication
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PMC4924281_01_13039_2016_261_Fig1_HTML.jpg
Fig1
At 16 months of age, physical examination revealed the following findings: a weight of 9.95 kg (10-20th percentile), a height of 80.1 cm (20-50th percentile), and minor dysmorphic facial features, including mild hypertelorism, a short mandible and a protuberant forehead (Fig. 1).
PMC4924281_02
Confirmation of CHL1 gene duplication by qPCR. a Results for the ALB reference gene. b Results for the PMP22 reference gene. Fragments 1, 2, and 3 correspond to exons 4, 12 and 26 of the CHL1 gene, respectively. The patient's father had a normal copy number of the CHL1 gene. The patient and his mother had a normal copy number of exon 4 but duplication of exons 12 and 26
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PMC4924281_02_13039_2016_261_Fig2_HTML.jpg
Fig2
Exons 12 and 26 were duplicated (Fig. 2).