Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss
- 1 December 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (4) , 783-790
- https://doi.org/10.1002/ajmg.1320190419
Abstract
We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangements involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.Keywords
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