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  • Title: Prenatal diagnosis of mosaic tetrasomy 5p.
    Author: Park JP, Barefoot KH, Ornvold K, Berg SZ, Dossu JR, Mohandas TK.
    Journal: Prenat Diagn; 2001 May; 21(5):351-3. PubMed ID: 11360274.
    Abstract:
    We report the prenatal diagnosis of a fetus with tetrasomy 5p mosaicism resulting from a supernumerary isochromosome for the short arm of chromosome 5. The pregnancy was terminated and fetal autopsy revealed minor facial abnormalities (long philtrum, up-slanting palpebral fissures and a broad nasal bridge). Cultures were established from fetal skin, kidney, and pancreas for cytogenetic analysis; the i(5p) was observed only in the skin fibroblasts. To our knowledge, this is the fourth report of mosaic tetrasomy 5p and the first report of prenatal diagnosis of this abnormality.
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