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To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome. Genomic DNA was extracted from peripheral blood samples taken from the patient and her parents, and was subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). Candidate CNVs were verified by chromosomal karyotyping analysis and fluorescence quantitative PCR. The child was found to harbor a 6 Mb heterozygous deletion in 2q37 by WES and CNV-seq. The deletion has encompassed 98 genes w
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