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Titolo:
Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)
Autore:
Kohlschmidt, N; Zielinski, J; Brude, E; Schafer, D; Olert, J; Hallermann, C; Coerdt, W; Arnemann, J;
Indirizzi:
Univ Mainz Klinikum, Dept Paediat Pathol, Mainz, Germany Univ Mainz Klinikum Mainz Germany , Dept Paediat Pathol, Mainz, Germany Univ Frankfurt Klinikum, Inst Human Genet, D-6000 Frankfurt, Germany Univ Frankfurt Klinikum Frankfurt Germany D-6000 6000 Frankfurt, Germany
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 2, volume: 20, anno: 2000,
pagine: 152 - 155
SICI:
0197-3851(200002)20:2<152:PDOAFW>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME CRITICAL REGION; SINGLE UMBILICAL ARTERY; CHROMOSOME-4; DISTAL;
Keywords:
Wolf-Hirschhorn syndrome; cryptic translocation; trisomy 18p; monosomy 4p; single umbical artery;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Arnemann, J Inst Human Genet, Theodor Stern Kai 7, D-60590 Frankfurt, Germany Inst Human Genet Theodor Stern Kai 7 Frankfurt Germany D-60590
Citazione:
N. Kohlschmidt et al., "Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)", PRENAT DIAG, 20(2), 2000, pp. 152-155

Abstract

Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. Karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillbornfetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli. 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 05/12/20 alle ore 01:14:57