PMC7343397_01
PMC7343397_02
PMC7343397_03
PMC7343397_04
Dysmorphic features of the patient with mid-face and malar hypoplasia, a broad nasal tip, a wide appearing mouth with a thin upper lip and a protruding lower lip, and a prominent lower jaw.
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PMC7343397_04_nihms-1602412-f0001.jpg
F1
She had normal dentition, a single uvula with a normal arched palate, and hypernasal voice (fig. 1).
Microarray analysis of the patient showing a copy number loss at 22q11.22 including the TOP3B gene.
nihms-1602412-f0002.jpg
PMC7343397_04_nihms-1602412-f0002.jpg
F2
The FirstStep PLUS chromosomal microarray analysis performed by Lineagen (Salt Lake City, UT) showed a copy number variant of unknown clinical significance described as a 22q11.22 loss (deletion) of base pair coordinates 22,311,348- 22,578,983 (hg build 19; fig. 2).