PMC8288804_01
PMC8288804_02
By chromosomal microarray analysis, the patient was found to have 22q11.2 hemizygous deletion mutation (red represents the missing fragment).
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PMC8288804_02_gr1.jpg
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A hemizygous deletion was found on chromosome 22, spanning approximately 3.15 Mb (chr22: 18648855-21800471) (Fig. 1).