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- W2329196652 abstract "A 7 years and 10 months old boy with tetrasomy 9 p (47 xy +i (9 p)), cleft lip and palate is reported.Tetrasomy 9 p is a very rare chromosome abnormality and has many clinical features.Previously, 15 cases had been reported, and our case is the 16 th case.We can find 7 cases of tetrasomy 9 p without the extra part for the long arm chromosome 9.We report the 8 th patient with a tetrasomy only of 9 p, who has multiple congenital malformations.Five cases among the 15 were complicated by cleft lip and palate.GALT enzyme activity in this case is twice the mean of the control values." @default.
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- W2329196652 date "1988-01-01" @default.
- W2329196652 modified "2023-10-03" @default.
- W2329196652 title "A case of tetrasomy 9p with cleft lip and palate." @default.
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- W2329196652 doi "https://doi.org/10.5794/jjoms.34.969" @default.
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