DNA was extracted from peripheral blood, using Gentra Puregene kit (QIAGEN Hilden, Germany). A single nucleotide polymorphism array (Illumina Infinium CytoSNP-850 K Beadchip, Illumina, San Diego, CA, USA) was performed and analyzed using BlueFuse Multi software v4.1 (Illumina). The Database of Genomic Variants (DGV) and the Thai CNV database [13 (link)] were used to exclude common structural variations in the Thai population.
In an attempt to enroll additional patients into the study, we reviewed curated databases, ClinGen and DECIPHER, searching for patients described as having small (~5Mb or less) microdeletions of the 8q21.3 region.
In an attempt to enroll additional patients into the study, we reviewed curated databases, ClinGen and DECIPHER, searching for patients described as having small (~5Mb or less) microdeletions of the 8q21.3 region.
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