Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7
- 1 January 1978
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 20 (1-6), 169-184
- https://doi.org/10.1159/000130849
Abstract
In a family in which a large pericentric inversion of chromosome 7 is segregating, two of the four progeny of inversion heterozygotes show severe psychomotor retardation and have the karyotype 46, XX, rec(7), dup q, inv(7)(p22q32), derived from crossing-over within the inversion. Meiotic analysis in one of the heterozygotes revealed no evidence of inversion loops in well-spread pachytene cells. In approximately 20 % of cells in diakinesis, the presumptive bivalent 7 had only one chiasma. Two alternatives to the reversed loop mode of meiotic pairing of inversions are proposed. Review of the literature supports the view that “small” pericentric inversions have a much better genetic prognosis than “large” pericentric inversions.Keywords
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