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EnglishWe 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.
| Autori: | |
| Data di pubblicazione: | 2008 |
| Titolo: | Patau sindrome with long survival in a case of unusual mosaic trisomy 13 |
| Rivista: | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| Codice identificativo ISI: | WOS:000258556200003 |
| Codice identificativo Scopus: | 2-s2.0-47549095043 |
| Parole Chiave: | FISH, Mosaicism, Patau syndrome, Phylloid hypomelanosis, Trisomy 13 |
| Appare nelle tipologie: | Articolo su Rivista |
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http://hdl.handle.net/11383/6565
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