Article
Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.
BMC medical genomics - 22 May 2023
Xu Hui-Hui, Zhang Yang, He Zhe-Hang, Di Xing-Hong, Pan Fei-Yan, Shi Wei-Wu
Abstract excerpt
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) technology and karyotype analysis. Furthermore, we reviewed patients with Xq22.1-q22.3 deletions or a deletion partially...
Topics
- Pregnancy
- Female
- Humans
- Pedigree
- DNA Copy Number Variations
- Phenotype
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes
- Mitochondrial Precursor Protein Import Complex Proteins