ArticleHuman molecular genetics2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 86 citations in OpenAlex.
- Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations.BMC pregnancy and childbirth · 2026Article
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.Molecular genetics & genomic medicine · 2024Article
- Review
- Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.Endocrine connections · 2023Article
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Extended application of BACs-on-Beads technique in prenatal diagnosis.Archives of medical science : AMS · 2023Article
- Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.Trends in genetics : TIG · 2022Review
- Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.PeerJ · 2022Article
- Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.Human molecular genetics · 2020Article
- Neurodevelopmental and associated changes in a patient with Xp22.31 duplication.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.Human mutation · 2020Article
- Microduplication of Xp22.31 andIranian journal of medical sciences · 2019Article
- Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.Genome medicine · 2019Article
- Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.Journal of assisted reproduction and genetics · 2019Article
- The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.European journal of human genetics : EJHG · 2019Article
- A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.Molecular cytogenetics · 2019Article
- Epilepsy phenotype in patients with Xp22.31 microduplication.Epilepsy & behavior case reports · 2019Article
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22 authors at 6 institutions in 1 country.
Funding
Abstract
Genomic instability is a feature of the human Xp22.31 region wherein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyperactivity disorder. A putative homologous recombination hotspot motif is enriched in low copy repeats that mediate recurrent deletion at this locus. To date, few efforts have focused on copy number gain at Xp22.31. However, clinical testing revealed a high incidence of duplication of Xp22.31 in subjects ascertained and referred with neurobehavioral phenotypes. We systematically studied 61 unrelated subjects with rearrangements revealing gain in copy number, using multiple molecular assays. We detected not only the anticipated recurrent and simple nonrecurrent duplications, but also unexpectedly identified recurrent triplications and other complex rearrangements. Breakpoint analyses enabled us to surmise the mechanisms for many of these rearrangements. The clinical significance of the recurrent duplications and triplications were assessed using different approaches. We cannot find any evidence to support pathogenicity of the Xp22.31 duplication. However, our data suggest that the Xp22.31 duplication may serve as a risk factor for abnormal phenotypes. Our findings highlight the need for more robust Xp22.31 triplication detection in that such further gain may be more penetrant than the duplications. Our findings reveal the distribution of different mechanisms for genomic duplication rearrangements at a given locus, and provide insights into aspects of strand exchange events between paralogous sequences in the human genome.
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