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• W1968058721 abstract "Tetrasomy of short arm of chromosome 9 constitutes a clinically recognizable chromosomal syndrome. Isochromosome 9p shows a strong propensity to tissue-limited mosaicism. It occurs predominantly in peripheral blood cultures, often at a lower frequency or even absent in skin, amniotic fluid or chorionic villous cell cultures. Tissue-limited nature of mosaicism may render prenatal detection of this condition very difficult. Herein, we report two new cases of mosaic tetrasomy 9p. Conventional cytogenetics (CC) and FISH studies demonstrated a differential expression of the mosaicism in several tissues. We review the literature and discuss the implications of these findings in cytogenetic prenatal diagnosis. © 2003 Wiley-Liss, Inc." @default.
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• W1968058721 date "2003-09-26" @default.
• W1968058721 modified "2023-09-27" @default.
• W1968058721 title "Two cases of tetrasomy 9p syndrome with tissue limited mosaicism" @default.
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• W1968058721 doi "https://doi.org/10.1002/ajmg.a.20447" @default.
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