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Prenat Diagn. 2004 Apr;24(4):290-2.

Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation.

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  • 1Centre of Medical Genetic and Prenatal Diagnosis, Az.Osp, G.Salesi, Ancona, Italy.


We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluorescence in situ hybridization was performed in order to characterize the complex chromosome rearrangement. Following genetic counselling, the couple decided to terminate the pregnancy.

Copyright 2004 John Wiley & Sons, Ltd.

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