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

Fogu, G; Maserati, Emanuela; Cambosu, F; Moro M., A; Poddie, F; Soro, G; Bandiera, P; Serra, G; Tusacciu, G; Sanna, G; Mazzarello, V; Montella, A.

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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Autori:	FOGU G MASERATI, EMANUELA CAMBOSU F MORO M. A PODDIE F SORO G BANDIERA P SERRA G TUSACCIU G SANNA G MAZZARELLO V MONTELLA A. mostra contributor esterni nascondi contributor esterni
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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