CASE-REPORT OF REC(7)DUP(7Q)INV(7) (P22Q22) AND A REVIEW OF THE RECOMBINANTS RESULTING FROM PARENTAL PERICENTRIC INVERSIONS ON ANY CHROMOSOMES

We report a rare case of duplication for 7q22 --> 7qter and deletion f or 7p22 --> 7pter, resulting from a meiotic recombination of a paterna l pericentric inversion, inv(7)(p22q122). The newborn boy had the 7q t risomy syndrome. In addition, the diagnosis of chondrodysplasia puncta ta was made from lumbar and hand Xray films taken soon after birth. On ly two cases of rec(7)dup(7q), both in a single family, have been repo rted previously. We review 133 offspring with recombinations resulting from pericentric inversions on any chromosomes reported between 1981 and 1995. Of the 133 cases, 110 had a long-aim duplication and short-a rm deletion, while only 23 had a short-arm duplication and long-arm de letion. In 85 of the 133 cases, the mother was an inversion carrier (f ive carriers had two affected offspring), and in 46, the carrier was a father (one carrier had three affected offspring). Kaiser [Hum Genet 1984;68:1-47] reviewed 63 offspring with recombinations derived from a parental pericentric inversion reported between 1972 and 1981. In bot h surveys, recombinations resulting from pericentric inversions of chr omosomes 1, 12, 19, and Y were not found. (C) 1997 Wiley-Liss, Inc.