Summary
Three patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case.
In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question.
These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.
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Ayme, S., Mattei, MG., Mattei, J.F. et al. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. Hum Genet 48, 7–12 (1979). https://doi.org/10.1007/BF00273267
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DOI: https://doi.org/10.1007/BF00273267