PMID- 18495567
OWN - NLM
STAT- MEDLINE
DCOM- 20081014
LR  - 20080728
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 51
IP  - 4
DP  - 2008 Jul-Aug
TI  - Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
PG  - 303-14
LID - 10.1016/j.ejmg.2008.03.004 [doi]
AB  - 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.
FAU - Fogu, Giuseppina
AU  - Fogu G
AD  - Clinical Genetics, Department of Biomedical Sciences, University of Sassari, 
      viale San Pietro, 43/C, 07100 Sassari, Italy. gfogu@uniss.it
FAU - Maserati, Emanuela
AU  - Maserati E
FAU - Cambosu, Francesca
AU  - Cambosu F
FAU - Moro, Maria Antonietta
AU  - Moro MA
FAU - Poddie, Fausto
AU  - Poddie F
FAU - Soro, Giovanna
AU  - Soro G
FAU - Bandiera, Pasquale
AU  - Bandiera P
FAU - Serra, Gigliola
AU  - Serra G
FAU - Tusacciu, Gianni
AU  - Tusacciu G
FAU - Sanna, Giuseppina
AU  - Sanna G
FAU - Mazzarello, Vittorio
AU  - Mazzarello V
FAU - Montella, Andrea
AU  - Montella A
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
DEP - 20080409
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Adult
MH  - Cell Lineage/genetics
MH  - Child
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
MH  - *Survivors
MH  - Syndrome
MH  - Trisomy/*genetics
EDAT- 2008/05/23 09:00
MHDA- 2008/10/15 09:00
CRDT- 2008/05/23 09:00
PHST- 2008/01/21 00:00 [received]
PHST- 2008/03/27 00:00 [accepted]
PHST- 2008/05/23 09:00 [pubmed]
PHST- 2008/10/15 09:00 [medline]
PHST- 2008/05/23 09:00 [entrez]
AID - S1769-7212(08)00048-7 [pii]
AID - 10.1016/j.ejmg.2008.03.004 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2008 Jul-Aug;51(4):303-14. doi: 10.1016/j.ejmg.2008.03.004. Epub 
      2008 Apr 9.