Document Detail


Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
MedLine Citation:
PMID:  18495567     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Giuseppina Fogu; Emanuela Maserati; Francesca Cambosu; Maria Antonietta Moro; Fausto Poddie; Giovanna Soro; Pasquale Bandiera; Gigliola Serra; Gianni Tusacciu; Giuseppina Sanna; Vittorio Mazzarello; Andrea Montella
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article     Date:  2008-04-09
Journal Detail:
Title:  European journal of medical genetics     Volume:  51     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2008 Jul-Aug
Date Detail:
Created Date:  2008-07-28     Completed Date:  2008-10-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  303-14     Citation Subset:  IM    
Affiliation:
Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro, 43/C, 07100 Sassari, Italy. gfogu@uniss.it
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adolescent
Adult
Cell Lineage / genetics
Child
Chromosomes, Human, Pair 13 / genetics*
Female
Humans
Infant, Newborn
Male
Mosaicism*
Survivors*
Syndrome
Trisomy / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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