Article
Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations.
International journal of molecular medicine - 1 May 2001
Chung M Y, Lu J H, Chien H P, Hwang B
Abstract excerpt
Using genotype analysis and multiplex quantitative polymerase chain reaction (PCR), chromosome 22q11 deletions were examined in 252 patients with syndromic or isolated conotruncal heart defect. Of these patients, 19 (7.5%) were found to be hemizygous for chromosome 22q11. Parental origin of the deleted chromosome was determined in 16 cases: one patient (6.3%) inherited a deleted chromosome 22 from his mother; all...
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