Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review

• Main Authors: Hui-Hui Xu (Author), Yang Zhang (Author), Zhe-Hang He (Author), Xing-Hong Di (Author), Fei-Yan Pan (Author), Wei-Wu Shi (Author)
• Format: Book
• Published: BMC, 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Xq22.1-q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1-q22.3 deletions. Methods Chromosome aberrations were identified by copy number variation sequencing (CNV-seq) t...