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

Zhonghua Er Ke Za Zhi. 2011 Apr;49(4):316-9.
[Article in Chinese]

Abstract

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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Nucleic Acid Amplification Techniques / methods*