Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark
Abstract
As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.
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45,X/46,XY mosaicism and its variants have an estimated prevalence of 3-15 per 100 000 newborns, with new data showing a prevalence of 5.6 per 100 000 liveborn phenotypically male infants and 2.1 per 100 000 liveborn phenotypically female infants.
“45,X/46,XY mosaicism and its variants (45,X/47,XXY, structural abnormalities of the Y chromosome) have an estimated prevalence of 3-15 per 100 000 newborns,37,38 with new data showing a prevalence of 5.6 per 100 000 liveborn phenotypically male infants and 2.1 per 100 000 liveborn phenotypically female infants.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [38]
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- Authors
- Nielsen, J., & Wohlert, M.
- Affiliations
- Aarhus Municipality (DK)
- Venue
- Human Genetics
- Published
- 1991-01
- Volume
- 87
- Issue
- 1
- Pages
- 81-83
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2072679514
- Cited by
- 1,193
- References
- 15
- Citations by year
- 2026: 23 · 2025: 36 · 2024: 41 · 2023: 49 · 2022: 29 · 2021: 51 · 2020: 77 · 2019: 39 · 2018: 87 · 2017: 46 · 2016: 29 · 2015: 48 · 2014: 33 · 2013: 45 · 2012: 60
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- chromosomal abnormalities, neonates, incidence, Down syndrome, reciprocal translocation, sex chromosome abnormalities, Klinefelter syndrome, XYY syndrome, triple X syndrome, Turner syndrome, prenatal diagnosis, abortion, Aarhus
- MeSH terms
- Chromosome Aberrations, Denmark, Female, Genetic Testing, Humans, Infant, Newborn, Male, Prospective Studies, Sex Chromosomes, Chromosome Disorders
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