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

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.

[22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR].

Objective: To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).

Methods: Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).

Results: The average heterozygosity of the STR markers in patients and controls was 0.