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Titolo:
Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings
Autore:
Froster, UG; Horn, LC; Holland, H; Strenge, S; Faber, R;
Indirizzi:
Univ Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Univ Leipzig Leipzig Germany D-04103 man Genet, D-04103 Leipzig, Germany Univ Leipzig, Inst Pathol, D-7010 Leipzig, Germany Univ Leipzig Leipzig Germany D-7010 Inst Pathol, D-7010 Leipzig, Germany Univ Leipzig, Dept Obstet & Gynecol, D-7010 Leipzig, Germany Univ LeipzigLeipzig Germany D-7010 t & Gynecol, D-7010 Leipzig, Germany
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 12, volume: 20, anno: 2000,
pagine: 992 - 995
SICI:
0197-3851(200012)20:12<992:PDODAD>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
DELETION; 18Q;
Keywords:
translocation 15;18; bilateral renal agenesis; Potter sequence;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Froster, UG Univ Leipzig, Inst Human Genet, Philipp Rosenthalstr 55, D-04103 Leipzig, Germany Univ Leipzig Philipp Rosenthalstr 55 Leipzig Germany D-04103
Citazione:
U.G. Froster et al., "Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings", PRENAT DIAG, 20(12), 2000, pp. 992-995

Abstract

A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis. Copyright (C) 2000 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 00:55:06