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

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) technolo...

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Detalles Bibliográficos
Autores principales: Xu, Hui-Hui, Zhang, Yang, He, Zhe-Hang, Di, Xing-Hong, Pan, Fei-Yan, Shi, Wei-Wu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201758/
https://www.ncbi.nlm.nih.gov/pubmed/37217926
http://dx.doi.org/10.1186/s12920-023-01547-2

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