FIGURE LEGENDS
Figure 1 - Pictures and CMA results of the two patients
Frontal and lateral views of the patient 1 at the age of 9 months
showing a square face, hypertelorism, short palpebral fissures, short
nose, full cheeks, cupped ears, smooth philtrum, and micrognathia. (b)
Frontal and lateral views of the patient 2 at the age of 2 years 10
months showing hypertelorism, epicanthal folds, smooth philtrum, and
depressed nasal bridge. (c) CMA results of patient 1 and patient 2.
Both patients have the same deletion on chromosome 9p and duplication
on chromosome 3p. Patient 2 has additional 85 kb- and 42 kb-deletions
with no genes present in these regions. These CNVs are considered
insignificant.
Figure S1 -Schematic representation of 3p duplications (a) and
9p deletions (b) in this study and previous reported cases.
Figure S2 -AOH regions in patient 1 and patient 2 detected by
CMA analysis are shown as purple box. Patient 2 has larger AOH region
(3.78% of the entire genome) than patient 1 (2.22% of the entire
genome), including 62 Mb AOH region on chromosome 7.