ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2004
Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 14 citations in OpenAlex.
- 47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries.Clinical case reports · 2019Article
- A mother with variant Turner syndrome and two daughters with trisomy X: a case report.Journal of genetics · 2013Article
- Triple x syndrome with short stature: case report and literature review.Iranian journal of pediatrics · 2012Article
- Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with non-obstructive azoospermia.Molecular human reproduction · 2008Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
We determined the meiotic origin and the stage of non-disjunction of the extra X chromosomes in two sisters with 47,XXX chromosomal complements. Segregation of the X chromosomes in all family members was analyzed using X-linked short tandem repeat polymorphic (STRP) markers. Densitometric analysis of two STRP markers confirmed that both sisters had three copies of the X chromosome and the extra X chromosomes were maternally derived. Both sisters did not share the same maternal homologue suggesting that the recurrent trisomy is non-homologous X chromosome-specific. Haplotype analysis demonstrated a reduction to homozygosity for markers examined, covering most of the length of the X chromosomes in both sisters. These findings suggested that the extra X chromosomes have derived from meiotic II non-disjunction following a nullitransitional meiosis I (MI). A lack of recombination in the X chromosomes of both sisters suggests a possible maternal genetic defect leading to an erratic recombination at MI. This information may contribute to further understanding of mechanisms leading to X chromosome non-disjunction and may assist in counseling of families with this chromosomal rearrangement.
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Registered trials
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