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

• Hoofdauteurs: Hui-Hui Xu (Auteur), Yang Zhang (Auteur), Zhe-Hang He (Auteur), Xing-Hong Di (Auteur), Fei-Yan Pan (Auteur), Wei-Wu Shi (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...