title: Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
abstract: 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.
authors.affiliation: Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro, 43/C, 07100 Sassari, Italy. gfogu@uniss.it
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fogu
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
authors.forename: Francesca
authors.initials: F
authors.lastname: Cambosu
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Moro
authors.forename: Fausto
authors.initials: F
authors.lastname: Poddie
authors.forename: Giovanna
authors.initials: G
authors.lastname: Soro
authors.forename: Pasquale
authors.initials: P
authors.lastname: Bandiera
authors.forename: Gigliola
authors.initials: G
authors.lastname: Serra
authors.forename: Gianni
authors.initials: G
authors.lastname: Tusacciu
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Sanna
authors.forename: Vittorio
authors.initials: V
authors.lastname: Mazzarello
authors.forename: Andrea
authors.initials: A
authors.lastname: Montella
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D019070:Cell Lineage / Q000235:genetics; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D017741:Survivors; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*