Origin of trisomy 21 in Down syndrome cases from a Spanish population registry

Ann Genet. 2000 Jan-Mar;43(1):23-8. doi: 10.1016/s0003-3995(00)00017-4.

Abstract

We have carried out a population-based study on the origin of the extra chromosome 21 in 38 families with Down syndrome (DS) offspring in El Vallès (Spain). From 1991 to 1994, a higher prevalence of DS (22.7/10000 live births, stillbirths and induced abortions) was found compared to the majority of EUROCAT registries. The distribution of trisomy 21 by origin was 88% maternal (90.6% meiosis I, 6.2% meiosis II, 3.1% maternal mosaicism), 5.6% paternal (50% meiosis I, 50% meiosis II) and 5.6% mitotic. The percentage of parental mosaicism was 2.7%. These percentages are similar to those previously reported. Recombination study revealed a maternal meiosis I genetic map of 32.68 cM (approximately one-half the length of the normal female map). Mean maternal age among non-recombinant cases involving MI errors was significantly lower (31.1 years) than among those cases showing one observable crossover (36.1 years) (P<0.05); this could support the hypothesis that 'achiasmate' chromosomes may be subject to aberrant segregation regardless of maternal age.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Induced
  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Congenital Abnormalities / epidemiology
  • Congenital Abnormalities / genetics
  • Down Syndrome / epidemiology*
  • Down Syndrome / genetics*
  • Female
  • Genetic Markers
  • Genomic Imprinting
  • Humans
  • Infant, Newborn
  • Male
  • Maternal Age
  • Microsatellite Repeats
  • Pregnancy
  • Prevalence
  • Registries
  • Spain / epidemiology

Substances

  • Genetic Markers