Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

• Main Authors: Jianlong Zhuang (Author), Qiulan Wei (Author), Yuying Jiang (Author), Shuhong Zeng (Author), Haijuan Lou (Author), Na Zhang (Author), Chunnuan Chen (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected. The objective of the present study was to elucidate the pathogenicity and clinical variability associated with isolated recurrent...