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- W2168677179 abstract "A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon. Cytogenetic evaluation of a second tissue (preferably skin) is suggested in patients with physical and mental abnormalities who have normal blood chromosome studies." @default.
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- W2168677179 date "1988-09-01" @default.
- W2168677179 modified "2023-10-17" @default.
- W2168677179 title "Trisomy 22 Mosaicism with Normal Blood Chromosomes" @default.
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- W2168677179 doi "https://doi.org/10.1177/000992288802700908" @default.
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