Familial pericentric inversion inv(8)(p23q11). Issue 3 (March 1994)

• Record Type: Journal Article
• Authors: Boyd, H; Kaste, J; Hovi, E; Ritanen-Mohammed, U M; Kääriäinen, H; de la Chapelle, A; Lehesjoki, A E
• Is Part Of: Journal of medical genetics. Volume 31:Issue 3(1994)
• Page Start: 201
• Page End: 205
• Publication Date: 1994-03
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.3.201
• Languages: English
• ISSNs: 1468-6244

Abstract

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.