[Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].

[22q11.2 deletion syndrome]

To carry out genetic analysis for two patients affected with congenital heart disease , developmental delay with or without cleft palate .Cytogenetic and molecular genetic methods including karyotyping , fluorescence in situ hybridization (FISH ), multiplex ligation-dependent probe amplification (MLPA ) and single nucleotide polymorphisms array (SNP-array ) were employed to detect potential mutations . For parents of both patients , MLPA was used to analyze whether they were carrier of the deletion .For neither patient , no abnormality was detected upon karyotype analysis . However , FISH analysis has indicated the presence of 22 q 11 .2 deletion . SNP-array analysis has confirmed that both patients have carried a 2 .5 Mb deletion in the 22 q 11 .2 region . MLPA analysis suggested none of the parents has carried the same deletion .Although the phenotypes of our patients were not identical , they were both diagnosed as 22 q 11 .2 deletion syndrome by multiple methods . The deletions in both cases were de novo in nature . Precise delineation of the genotype can facilitate better understanding of the patients ' phenotype .