ArticleBMC medical genomics2021
Identifying of 22q11.2 variations in Chinese patients with development delay.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Pooled it
- Dysregulated adult hippocampal neurogenesis in major depressive disorder.Nature medicine · 2026Article
- Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.Clinical genetics · 2026Article
- Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.Brain sciences · 2024Article
- A Systematic Investigation of Complement and Coagulation-Related Protein in Autism Spectrum Disorder Using Multiple Reaction Monitoring Technology.Neuroscience bulletin · 2023Article
- Article
- 22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.Molecular syndromology · 2023Article
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.American journal of medical genetics. Part A · 2022Article
- Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.Molecular cytogenetics · 2021Article
- Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.BMC medical genomics · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
background22q11.2 variation is a significant genetic factor relating to development delay and/or intellectual disability. However, the prevalence, genetic characteristics and clinical phenotype in Chinese patients are unknown.
methodsIn total 6034 patients with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification (MLPA) P245 and G-band karyotyping. The positive patients with 22q11.2 imbalance were confirmed by MLPA P250 assay.
results52 (0.86%) patients were found to carry different levels of 22q11.2 variations, in which 37 cases (71.2%) had heterozygous deletions, whereas 15 (28.8%) had heterogeneous duplications. 34 cases (65.4%) carried typical imbalance from low copy repeat (LCR) 22 A to D. The other cases had atypical variations, relating to LCR22 A-B, LCR22 C-D, LCR22 B-D, LCR22 D-E, LCR22 E-F and LCR22 B-F region. The phenotypes of these 52 patients were variable, including development delay, language delay, facial anomalies, heart defects, psychiatric/behavior problems, epilepsy, periventricular leukomalacia, hearing impairment, growth delay etc.
conclusionThese data revealed the prevalence and variability of 22q11.2 genomic imbalance in Chinese patients with development delay and/or intellectual disability. It suggested that genetic detection of 22q11.2 is necessary, especially for the patients with mental retardation and development disorders, which deserves the attention of all pediatricians in their daily work.
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