Familial pericentric inversion inv(8)(p23q11).
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.
Boyd
H
H
Department of Medical Genetics, University of Helsinki, Finland.
Kaste
J
J
Hovi
E
E
Ritanen-Mohammed
U M
UM
Kääriäinen
H
H
de la Chapelle
A
A
Lehesjoki
A E
AE
D000022:Abortion, Spontaneous / Q000235:genetics*; D016009:Chi-Square Distribution; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005387:Finland; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy