Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing‐over
- 1 January 1978
- journal article
- research article
- Published by Wiley in Annals of Human Genetics
- Vol. 41 (3), 315-322
- https://doi.org/10.1111/j.1469-1809.1978.tb01898.x
Abstract
Two unrelated infants with partial trisomy 13 for the distal half of the long arm are described. In one, a familial pericentric inversion is present in 3 generations and crossing-over in the inversion loop is considered as cause of partial trisomy 13. The other showed a tandem duplication of the distal half of the long arm of chromosome 13 beyond 13q14. This is interpreted to have arisen by unequal crossing-over in mispaired synapsis. Recombination rather than breaks is apparently a distinctive although rare cause of human chromosomal imbalance.This publication has 19 references indexed in Scilit:
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