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Titolo:
Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound
Autore:
Tercanli, S; Miny, P; Siebert, MS; Hosli, I; Surbek, DV; Holzgreve, W;
Indirizzi:
Univ Basel Hosp, Dept Obstet & Gynecol, CH-4031 Basel, Switzerland Univ Basel Hosp Basel Switzerland CH-4031 ol, CH-4031 Basel, Switzerland Univ Childrens Hosp, Div Med Genet, Basel, Switzerland Univ Childrens Hosp Basel Switzerland Div Med Genet, Basel, Switzerland
Titolo Testata:
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
fascicolo: 2, volume: 17, anno: 2001,
pagine: 160 - 162
SICI:
0960-7692(200102)17:2<160:FAAWIN>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
1ST TRIMESTER; DIAGNOSIS; HETEROZYGOTES; GESTATION; PREGNANCY; BREAKAGE; REGISTRY; SPECTRUM; FETUSES; DEFECTS;
Keywords:
fanconi anemia; increased nuchal translucency; first trimester; ultrasound;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Tercanli, S Univ Basel Hosp, Dept Obstet & Gynecol, Schanzenstr 41, CH-4031 Basel, Switzerland Univ Basel Hosp Schanzenstr 41 Basel Switzerland CH-4031 land
Citazione:
S. Tercanli et al., "Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound", ULTRASOUN O, 17(2), 2001, pp. 160-162

Abstract

Increased nuchal translucency between 10 and 14 weeks of gestation has nowbeen established as a marker for chromosomal defects in several large-scale studies. In addition, a growing number of structural defects and some rare genetic syndromes have been identified in association with this marker. We describe a case of a fetus with increased nuchal translucency at 12 weeksof gestation, in which second-trimester evaluation by ultrasound showed anenlarged cisterna magna, a ventricular septal defect and moderate signs ofdysmorphia. Kalyotyping by chorionic villus sampling revealed a high rate of chromosomal breaks. The diagnosis of Fanconi anemia with early onset wasconfirmed following the development of severe postnatal anemia 2 months after birth.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 22:33:42