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

Autor: Reish, Orit, Berryman, Todd, Cunningham, Thomas R., Sher, Carron, Oetting, William S.
Zdroj: Chromosome Research; March 2004, Vol. 12 Issue: 2 p125-132, 8p
Abstrakt: 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.
Databáze: Supplemental Index
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