Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
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.
Fogu
Giuseppina
G
Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro, 43/C, 07100 Sassari, Italy. gfogu@uniss.it
Maserati
Emanuela
E
Cambosu
Francesca
F
Moro
Maria Antonietta
MA
Poddie
Fausto
F
Soro
Giovanna
G
Bandiera
Pasquale
P
Serra
Gigliola
G
Tusacciu
Gianni
G
Sanna
Giuseppina
G
Mazzarello
Vittorio
V
Montella
Andrea
A
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*