Reproductive risk of paracentric inversion carriers: Report of two unrelated cases with paracentric inversion of the long ARM of chromosome 3

Two unrelated cases with a paracentric inversion involving the long arm of a chromosome 3 were described. One case was a 29-year-old female with habitual spontaneous abortions. The karyotype was 46,XX,inv(3)(q25q27). The other case was a two year one month-old girl with growth and psychomotor retardation and multiple minor anomalies. She was found to have a recombinant chromosome 3 resulting from a paternal paracentric inversion. The karyotype of the patient was 46,XX, rec(3),dup(q26.3),inv(3)(q12q29)pat. The review of previously reported cases showed a considerable risk for live-born recombinants derived from parental paracentric inversions and the analysis of reproductive histories of inversion carriers suggested a possible contribution of this type of chromosome abnormalities to the cause of spontaneous abortions.