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[Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification]. | LitMetric

Objective: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.

Method: MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.

Result: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.

Conclusion: Three cases had 22q11 microdeletion in the congenital heart defects.

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