Objective To explore the clinical features and cytomolecular genetics of 9p deletion syndrome with 20q 12-13.33 duplication.Methods The karyotype changes in the peripheral blood of one child and their parents were analyzed by conventional G-banding analysis,and the karyotype analysis results were accurately located in combination with low depth whole genome sequencing(CNV-seq).Results he results of CNV-seq showed that the deletion of region p24.3-24.1 on chro-mosome 9 was 5.74 Mb(chr9:200000-5940000),and the duplication of region q12-13.33 on chromosome 20 was 23.04 Mb(chr20:39880000-62920000).The mother of the child had a balanced insertion translocation of 9p24 and 20q1 3.1-q13.3,and the child inherited chromosome 9 and chromosome 20 from the mother,respectively.Finally,the abnormal karyotype of the child was confirmed by CNV-seq results.Conclusion 9p deletion syndrome and 20q12-13.33 duplication are the main reasons for the abnormal phenotype of the patient.Combining cytogenetic testing methods with molecular genetics testing methods can help to clarify the nature of translocation and trace the source of abnormal chromosomes,which is conducive to the as-sessment of recurrence risk.Compared with a single cytogenetic analysis method,CNV seq technology has higher resolution and accuracy in chromosome copy number variation.
9p deletion syndrome20q12-13.33 duplicationkaryotype technology analysislow-depth copy number variation sequencing
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