›› 2014, Vol. 32 ›› Issue (8): 757-.doi: 10.3969 j.issn.1000-3606.2014.08.015
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PENG Wei, YANG Xiao, LIU Xin, WU Honglin, WANG Yan
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Abstract: Objective To investigate the diagnosis of a case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization (array-CGH) and to analyze the relationship between the clinical manifestations and 7p15.3p22.1 microdeletion. Method Array-CGH technique was used to detect genomic copy number variations (CNVs) in an infant with normal karyotype after conventional chromosomal karyotyping. Results Array-CGH detected 7p15.3p22.1 deletion (chr7: 6777262-23981753), which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion Array-CGH could serve as a useful complement for G-banding to be used in the clinical cytogenetic diagnosis.
PENG Wei, YANG Xiao, LIU Xin, WU Honglin, WANG Yan. Diagnosis of one case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization[J]., 2014, 32(8): 757-.
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URL: https://jcp.xinhuamed.com.cn/EN/10.3969 j.issn.1000-3606.2014.08.015
https://jcp.xinhuamed.com.cn/EN/Y2014/V32/I8/757
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