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A woman carrier of two apparently unrelated reciprocal translocations

✍ Scribed by G. Simoni; E. Montali; F. Rossella; L. Dalprà; F. Curto

Publisher
Springer
Year
1979
Tongue
English
Weight
176 KB
Volume
46
Category
Article
ISSN
0340-6717

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✦ Synopsis

Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.

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## Abstract We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3‐segment chromosome derived from two paternal reciprocal translocations involving both homologs of chr