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- W3048562249 abstract "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 with a range from GBX2 to LINC01881, and was de novo in origin. The result of fluorescence quantitative PCR was consistent with that of WES and CNV-seq. However, karyotyping analysis has failed to detect the deletion.The patient was diagnosed with 2q37 deletion syndrome. Combined WES and CNV-seq method features high resolution, high throughput, and high sensitivity, which can significant raise the diagnostic rate for patients with mental disorder, multiple malformations and unknown syndromes." @default.
- W3048562249 created "2020-08-18" @default.
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- W3048562249 date "2020-08-10" @default.
- W3048562249 modified "2023-10-14" @default.
- W3048562249 title "[Diagnosis of a case of 2q37 deletion syndrome by whole exome sequencing combined with whole genome low-coverage sequencing method]." @default.
- W3048562249 doi "https://doi.org/10.3760/cma.j.issn.1003-9406.2020.08.019" @default.
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