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

Familial pericentric inversion inv(8)(p23q11)

H Boyd  1 , J Kaste, E Hovi, U M Ritanen-Mohammed, H Kääriäinen, A de la Chapelle, A E Lehesjoki
Affiliations

Familial pericentric inversion inv(8)(p23q11)

H Boyd et al. J Med Genet. 1994 Mar.

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.

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