Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX

Orit Reish, Todd Berryman, Thomas R. Cunningham, Carron Sher, William S. Oetting

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11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)125-132
Number of pages8
JournalChromosome Research
Volume12
Issue number2
DOIs
StatePublished - Mar 19 2004

Keywords

  • Meiosis I
  • Meiosis II
  • Non-disjunction
  • Recombination
  • Trisomy X

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