ArticleAmerican journal of human genetics1997
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome.Molecular and cellular pediatrics · 2026Review
- NGS-Based Identification of Two NovelInternational journal of molecular sciences · 2024Article
- Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.European journal of human genetics : EJHG · 2024Article
- Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation.Research and practice in thrombosis and haemostasis · 2023Article
- A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.Blood advances · 2022Article
- NovelNeurology. Genetics · 2022Article
- Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.American journal of medical genetics. Part A · 2021Article
- X-factors in human disease: impact of gene content and dosage regulation.Human molecular genetics · 2021Review
- A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation.Biology of sex differences · 2020Article
- Random X chromosome inactivation in patients with Klinefelter syndrome.Molecular and cellular pediatrics · 2020Article
- Aberrant X chromosome skewing and acquired clonal hematopoiesis in adult-onset common variable immunodeficiency.JCI insight · 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
- Intragenomic Conflict and Immune Tolerance: Do Selfish X-Linked Alleles Drive Skewed X Chromosome Inactivation?Genome biology and evolution · 2018Article
- Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Genes · 2016Article
- Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.Human mutation · 2016Article
- N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.Journal of inherited metabolic disease · 2016Article
- X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.Clinical genetics · 2016Article
- Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Molecular syndromology · 2014Article
- How has the study of the human placenta aided our understanding of partially methylated genes?Epigenomics · 2013Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The inactivation of one X chromosome in females is normally random with regard to which X is inactivated. However, exclusive or almost-exclusive inactivation of one X may be observed in association with some X-autosomal rearrangements, mutations of the XIST gene, certain X-linked diseases, and MZ twinning. In the present study, a methylation difference near a polymorphism in the X-linked androgen-receptor gene was used to investigate the possibility that nonrandom X inactivation is increases in fetuses and newborns that are associated with confined placental mosaicism (CPM) involving an autosomal trisomy. Extreme skewing was observed in 7 (58%) of 12 cases with a meiotic origin of the trisomy, but in none of 10 cases examined with a somatic origin of the trisomy, and in only 1 (4%) of 27 control adult females. In addition, an extremely skewed X-inactivation pattern was observed in 3 of 10 informative cases of female uniparental disomy (UPD) of chromosome 15. This may reflect the fact that a proportion of UPD cases arise by "rescue" of a chromosomally abnormal conceptus and are therefore associated with CPM. A skewed pattern of X inactivation in CPM cases is hypothesized to result from a reduction in the size of the early-embryonic cell pool, because of either poor early growth or subsequent selection against the trisomic cells. Since approximately 2% of pregnancies detected by chorionic villus sampling are associated with CPM, this is likely a significant contributor to both skewed X inactivation observed in the newborn population and the expression of recessive X-linked diseases in females.
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