ArticlePloS one2016
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.Molecular genetics & genomic medicine · 2020Pooled it
- Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies.Prenatal diagnosis · 2026Article
- Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening.Journal of genetic counseling · 2025Article
- Epigenetic developmental mechanisms underlying sex differences in cancer.The Journal of clinical investigation · 2024Review
- A sociodemographic index identifies non-biological sex-related effects on insomnia in the Hispanic Community Health Study/Study of Latinos.medRxiv : the preprint server for health sciences · 2024Article
- A sociodemographic index identifies sex-related effects on insomnia in the Hispanic Community Health Study/Study of Latinos.Sleep advances : a journal of the Sleep Research Society · 2024Article
- Sex as a Biological Variable in Tissue Engineering and Regenerative Medicine.Annual review of biomedical engineering · 2023Review
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.Frontiers in molecular biosciences · 2023Article
- Experiences of individuals receiving a sex chromosome multisomy diagnosis.Journal of community genetics · 2022Article
- Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022Review
- Sex Chromosome Dosage Effects on White Matter Structure in the Human Brain.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.Clinical epigenetics · 2021Article
- Sex differences in health and disease: A review of biological sex differences relevant to cancer with a spotlight on glioma.Cancer letters · 2021Review
- Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome).The application of clinical genetics · 2019Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.
methodsThis retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).
resultsFrom 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions.
conclusionsSingle chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.
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