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Titolo:
PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
Autore:
TURCO AE; PEISSEL B; ROSSETTI S; SELICORNI A; MANOUKIAN S; BRUSASCO A; TADINI G; GALIMBERTI A; TASSIS B; TUROLLA L; TENCONI R; PIGNATTI PF;
Indirizzi:
UNIV VERONA,HOSP POLYCLIN B ROMA,SCH MED,INST BIOL SCI & GENET I-37134 VERONA ITALY UNIV PADUA,DEPT PEDIAT,MOLEC GENET SECT I-35100 PADUA ITALY UNIV MILAN,CLIN MANGIAGALLI,ICP,CYTOGENET LAB I-20122 MILAN ITALY UNIV MILAN,CTR INHERITED CUTANEOUS DIS,DEPT DERMATOL & PEDIAT DERMATOL 1 I-20122 MILAN ITALY UNIV MILAN,DEPT OBSTET & GYNECOL 1 I-20122 MILAN ITALY
Titolo Testata:
American journal of medical genetics
fascicolo: 8, volume: 47, anno: 1993,
pagine: 1225 - 1230
SICI:
0148-7299(1993)47:8<1225:PTIAFA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE ANALYSIS; DIAGNOSIS; CHROMOSOME-16; FAMILIES; MARKERS;
Keywords:
ADPKD; JUNCTIONAL EPIDERMOLYSIS BULLOSA; PRENATAL DIAGNOSIS; LINKAGE ANALYSIS; RISK ESTIMATION; BAYESIAN APPROACH;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Turco et al., "PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA", American journal of medical genetics, 47(8), 1993, pp. 1225-1230

Abstract

Amniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk for autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had died at 3 months of EBJ. The mother of the propositus hasADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inheritedthe ADPKD chromosome from the affected mother, with a diagnostic accuracy of >99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ-associated abnormalities. Thus,combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered. (C) 1993 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 10:12:38