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ObjectivesConotruncal heart defects (CTD) are associated with del22q11.2 syndrome, which is often diagnosed by fluorescence in‐situ hybridization (FISH). However, in those negative for del22q11.2 on FISH, the etiology is usually obscure. We aimed to use high‐resolution array comparative genomic hybridization (array CGH) to clarify the underlying genetic causes in these cases.
MethodsIn this retrospective study, fetal samples of amniocytes or fibroblasts, taken either for prenatal diagnosis by amniocentesis or for postnatal survey after termination of pregnancy, were obtained from 45 fetuses with CTD and were investigated by cytogenetic analysis including karyotyping and FISH for del22q11.2 syndrome. Eight fetuses with no findings on karyotyping and FISH were investigated further by array CGH, real‐time quantitative polymerase chain reaction (qPCR) and Sanger sequencing of...
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