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Eur J Med Genet. 2008 Jul-Aug;51(4):303-14. doi: 10.1016/j.ejmg.2008.03.004. Epub 2008 Apr 9.

Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

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Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro, 43/C, 07100 Sassari, Italy.


We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported.

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