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

Fogu, Giuseppa and Maserati, Emanuela and Cambosu, Francesca and Moro, Maria Antonietta Serafina and Poddie, Fausto Pier'Angelo and Soro, Giovanna and Bandiera, Pasquale and Serra, Gigliola and Tusacciu, Gianni and Sanna, Giuseppina and Mazzarello, Vittorio Lorenzo Giuseppe and Montella, Andrea Costantino Mario (2008) Patau syndrome with long survival in a case of unusual mosaic trisomy 13. European Journal of Medical Genetics, Vol. 51 (4), p. 303-314. ISSN 1769-7212. Article.

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DOI: 10.1016/j.ejmg.2008.03.004


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.

Item Type:Article
ID Code:506
Uncontrolled Keywords:Patau syndrome, trisomy 13, mosaicism, FISH, phylloid hypomelanosis
Subjects:Area 05 - Scienze biologiche > BIO/16 Anatomia umana
Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
001 Università di Sassari > 03 Istituti > Neuropsichiatria infantile
Copyright Holders:© 2008 Elsevier Masson
Deposited On:18 Aug 2009 10:02

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