X chromosome loss and ageing
Abstract
The detection of a low level 45,X cell line during routine cytogenetic analysis in an adult female can be difficult to interpret. In the absence of recent information regarding loss of the X chromosome and ageing, we undertook a prospective study. A total of 19,650 cells from 655 females aged from birth to 80 years were screened cytogenetically. The frequency of X chromosome loss ranged from 0.07% at age <16 years to 7.3% at >65 years of age and showed a highly significant quadratic relationship between X chromosome loss and ageing (P < or = 0.00001). We have produced a graphic representation that provides a minimum baseline age-related rate of X chromosome loss. This should assist diagnostic cytogenetics laboratories to determine the significance of 45,X cell lines detected in women of all ages. We also compared the frequency of 45,X cells in women referred with at least one spontaneous abortion with those referred for other reasons and found no significant difference. Thus, in our population, an excess of 45,X cells is not associated with pregnancy loss.
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45,X mosaicism may develop in older women due to age-related loss of one of the X chromosomes.
“In addition, a diagnosis of TS should not be used in women over the age of 50 years with less than 5% 45,X cells in case of symptoms, because 45,X mosaicism may develop in older women due to age-related loss of one of the X chromosomes.10”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [10]
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Turner syndrome through the lens of a gynaecologist
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- Authors
- Russell, L. M., Strike, P., Browne, C. E., & Jacobs, P. A.
- Affiliations
- Salisbury District Hospital (GB)
- Wessex Regional Genetics Laboratory (GB)
- Venue
- Cytogenetic and Genome Research
- Publisher
- S. Karger AG
- Published
- 2007
- Volume
- 116
- Issue
- 3
- Pages
- 181-185
- ISSN
- 1424-859X (ISSN-L)
- 1424-8581
- OpenAlex
- W2008036210
- Cited by
- 264
- References
- 23
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 14 · 2023: 13 · 2022: 12 · 2021: 19 · 2020: 16 · 2019: 14 · 2018: 45 · 2017: 10 · 2016: 16 · 2015: 13 · 2014: 7 · 2013: 9 · 2012: 7
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cytogenetic and Genome Research (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- 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
- Keywords
- X chromosome loss, aging, miscarriage, X chromosome inactivation, cytogenetic diagnosis
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Aging, Cell Count, Child, Child, Preschool, Chromosome Deletion, Female, Humans, Infant, Infant, Newborn, Lymphocytes, Middle Aged, Age Distribution, Chromosomes, Human, X
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