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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...

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Identifiers

PMID: 37217926
DOI: 10.1186/s12920-023-01547-2
PMCID: PMC10201758

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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