Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
DELETION 10Q23.2-Q23.33 IN A PATIENT WITH GASTROINTESTINAL JUVENILE POLYPOSIS AND OTHER FEATURES OF A COWDEN-LIKE SYNDROME
Autore:
TSUCHIYA KD; WIESNER G; CASSIDY SB; LIMWONGSE C; BOYLE JT; SCHWARTZ S;
Indirizzi:
CTR HUMAN GENET LAB,10524 EUCLID AVE,6TH FLOOR CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,SCH MED,DEPT GENET CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,SCH MED,CTR HUMAN GENET CLEVELAND OH 00000 UNIV HOSP CLEVELAND CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,SCH MED,DEPT PEDIAT CLEVELAND OH 44106
Titolo Testata:
Genes, chromosomes & cancer
fascicolo: 2, volume: 21, anno: 1998,
pagine: 113 - 118
SICI:
1045-2257(1998)21:2<113:D1IAPW>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
LHERMITTE-DUCLOS DISEASE; MYHRE-SMITH SYNDROME; ALLELIC LOSS; PROSTATE-CANCER; NEUROFIBROMATOSIS; CHROMOSOME-10; REGIONS; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
36
Recensione:
Indirizzi per estratti:
Citazione:
K.D. Tsuchiya et al., "DELETION 10Q23.2-Q23.33 IN A PATIENT WITH GASTROINTESTINAL JUVENILE POLYPOSIS AND OTHER FEATURES OF A COWDEN-LIKE SYNDROME", Genes, chromosomes & cancer, 21(2), 1998, pp. 113-118

Abstract

A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6-year-old boy with mental retardation, dysmorphic features, and juvenile polyposis coli. In order to map this patient's deletion physically, we performed fluorescence in situ hybridization by using yeast artificial chromosomes (YACs) in the vicinity of the deletion. Five YACs that span an 11-15 cM region within the deletion wereidentified. This patient's deletion contains the putative locus for Cowden syndrome and a recently discovered candidate tumor suppressor gene (MMAC1 or PTEN) that has been implicated in the progression of a variety of human malignancies. Furthermore, the deletion is near and possibly overlaps a locus associated with juvenile polyposis. The findings in this patient with a constitutional 10q23 deletion raise the issueof whether there are separate genes in this region that are involved in Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis, and tumor progression, or whether all of these entities could be due to a single gene. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 11:52:18