Study Detail

TitleTargeted resequencing of the remaining allele in the 22q11 region for 127 patients
Study TypeOther
Abstract The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted Illumina HiSeq 2000 resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, and ap .. [more]
Description The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted Illumina HiSeq 2000 resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, and ap .. [more]
Center NameKU LEUVEN