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Pericentric inversions of chromosome 12 in two families

✍ Scribed by F. Prieto; L. Badía; F. Asensi; A. Moya; M. -J. Figuera

Publisher
Springer
Year
1981
Tongue
English
Weight
733 KB
Volume
57
Category
Article
ISSN
0340-6717

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✦ Synopsis

Two cases of pericentric inversion of chromosome 12 are presented, one 46,XX,inv(12)(p13;q11) and the other was also a heterozygotic carrier of the inversion. These inversions were detected among 4035 cytogenetic analyses carried out in patients with psychosomatic retardation and/or malformations (357 with a Down phenotype) and in patients with histories of miscarriages, sterility, or growth failure. In cases studied from a review of the literature together with our own we found that among 3235 cases of Down syndrome there were 7 patients with trisomy 21 and inherited balanced reciprocal translocation involving chromosomes other than pair 21. The frequent participation of some chromosomes in these balanced reciprocal translocations, above all those of group A (1-3), suggests that these and probably other rearrangements could make the segregation of chromosome 21 easier.

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