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Familial pericentric inversion inv(8)(p23q11)

J Med Genet. 1994 Mar;31(3):201-5. doi: 10.1136/jmg.31.3.201.

Abstract

We describe two families in whom a pericentric inversion, inv(8)(p23q11), is segregating. No examples of unbalanced karyotypes were encountered. The families originated from neighbouring parishes in western Finland. In one family a mild form of mental retardation segregated. However, this phenotype did not cosegregate with the inversion karyotype. There was no evidence of a higher than average abortion rate in the inversion carriers. Carrier matings produced 19 children with a balanced inversion and 14 children with a normal karyotype, concordant with a 1:1 segregation ratio. Of 13 karyotyped men at risk, 10 were inversion carriers. However, this difference was not statistically different from the expected 1:1 ratio. In females, the inversion carrier to normal ratio was 10:11.

MeSH terms

  • Abortion, Spontaneous / genetics*
  • Chi-Square Distribution
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 8*
  • Female
  • Finland
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Pregnancy