›› 2014, Vol. 32 ›› Issue (8): 757-.doi: 10.3969 j.issn.1000-3606.2014.08.015

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Diagnosis of one case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization

PENG Wei, YANG Xiao, LIU Xin, WU Honglin, WANG Yan   

  1. Clincical Genetics Center, Bayi Children’s Hospital Affiliated to Beijing Military Region General Hospital, Beijing 100700, China
  • Received:2014-08-15 Online:2014-08-15 Published:2014-08-15

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.