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- W2078131185 abstract "Many types of chromosome mosaicism have been identified in cases of hypomelanosis of Ito, often in association with chromosome instability; however, there have been very few cases with diploid-tetraploid mosaicism described in the literature. We present a patient with a tetraploid mosaicism: a 17-year-old girl who has hypomelanosis of Ito in association with diploid/tetraploid/t(1;6) mosaicism. She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus. These features have not been described previously in diploid-tetraploid mosaicism." @default.
- W2078131185 created "2016-06-24" @default.
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- W2078131185 date "2002-09-15" @default.
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- W2078131185 title "Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry" @default.
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- W2078131185 doi "https://doi.org/10.1002/ajmg.10662" @default.
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