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Case Reports
. 1980 Aug;17(4):309-12.
doi: 10.1136/jmg.17.4.309.

Pericentric inversion (13) with two different recombinants in the same family

E M Williamson, J F Miller, M Seabright
Case Reports

Pericentric inversion (13) with two different recombinants in the same family

E M Williamson et al. J Med Genet. 1980 Aug.

Abstract

A family is described in which a pericentric inversion (13) was discovered in the father after the birth of an abnormal baby. In a further pregnancy amniocentesis was carried out. The fetal karyotype showed a rec(13)dup p,inv(13)(p11q22). The fetus's abnormalities were similar to those observed in the first child. Family studies showed that a first cousin, mentally retarded, had a rec(13)dup q,inv(13)(p11q22) karyotype. In this family, the risk of occurrence of a recombinant in offspring of an inversion carrier could be as high as 40%.

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References

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