Publication: Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations
Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations
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Riegel, M., Wisser, J., Baumer Wolz, A., & Schinzel, A. (2006). Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenatal Diagnosis, 26(3), 221–225. https://doi.org/10.1002/pd.1383
Abstract
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OBJECTIVE
To investigate the origin and mechanisms of formation of isochromosomes 13q and 21q in instances where prenatal chromosome examination revealed a normal karyotype while postnatal chromosome examination from blood showed translocation trisomy 13 and 21.
METHODS
G and/or Q-banded chromosome examinations from CVS cultures and lymphocyte chromosome examinations from two newborns. Microsatellite marker analysis of DNA from the probands and their parents. Prenatal ultrasonic examinations of the fetuses and postnatal clinical ex
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Citations
Riegel, M., Wisser, J., Baumer Wolz, A., & Schinzel, A. (2006). Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenatal Diagnosis, 26(3), 221–225. https://doi.org/10.1002/pd.1383