title: Pericentric inversion of chromosome 12; a three family study.
abstract: A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The breakpoints in all three families were localized to p13 and q13, resulting in more than one-third of the total length of the chromosomes being inverted. However, no chromosomal aberrations arising because of meiotic crossing-over inside the inverted area have been found among the offspring of the carriers. The percentage of spontaneous abortions among carriers is found to be high, viz. 33%. The segregation rate is calculated to be 0.58, which is not significantly different from an expected segregation rate of 0.5. In family 3, an additional inversion of a chromosome 9 has been found in 4 individuals. Our results are discussed in relation to previous findings and with respect to the genetic counselling of families with pericentric inversions.
authors.affiliation: Institute of Human Genetics, University of Arhus, Denmark.
authors.forename: A
authors.initials: A
authors.lastname: Haagerup
authors.forename: J M
authors.initials: JM
authors.lastname: Hertz
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D007446:Chromosome Inversion; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy