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Titolo:
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
Autore:
Muller, F; Rebiffe, M; Taillandier, A; Oury, JF; Mornet, E;
Indirizzi:
Hop Ambroise Pare, F-92104 Boulogne, France Hop Ambroise Pare Boulogne France F-92104 Pare, F-92104 Boulogne, France Univ Versailles, F-78000 Versailles, France Univ Versailles Versailles France F-78000 es, F-78000 Versailles, France Hop Robert Debre, F-75020 Paris, France Hop Robert Debre Paris France F-75020 obert Debre, F-75020 Paris, France
Titolo Testata:
HUMAN GENETICS
fascicolo: 3, volume: 106, anno: 2000,
pagine: 340 - 344
SICI:
0340-6717(200003)106:3<340:POOTEC>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
ADVANCED MATERNAL AGE; DOWN-SYNDROME; PATERNAL NONDISJUNCTION; NUCHAL TRANSLUCENCY; DNA POLYMORPHISMS; MEIOTIC STAGE; MEIOSIS-I; RECOMBINATION; CONFIGURATIONS; GESTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Muller, F Hop Ambroise Pare, F-92104 Boulogne, France Hop Ambroise Pare Boulogne France F-92104 104 Boulogne, France
Citazione:
F. Muller et al., "Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21", HUM GENET, 106(3), 2000, pp. 340-344

Abstract

Trisomy 21 (Down syndrome) is one of the most common chromosomal abnormalities. Of cases of free trisomy 21 causing Down syndrome, about 95% result from nondisjunction during meiosis, and about 5% are due to mitotic errors in somatic cells. Previous studies using DNA polymorphisms of chromosome 21 showed that paternal origin of trisomy 21 occurred in only 6.7% of cases. However, these studies were conducted in liveborn trisomy 21-affected infants, and the possible impact of fetal death was not taken into account. Usingnine distinct DNA polymorphisms, we tested 110 families with a prenatally diagnosed trisomy 21 fetus. Of the 102 informative cases, parental origin was maternal in 91 cases (89.2%) and paternal in 11 (10.8%). This percentagediffers significantly from the 7.0% observed in previous studies (P<0.001). In order to test the influence of genomic parental imprinting, we determined the origin of the extra chromosome 21 in relation to different factors:advanced maternal age, maternal serum human chorionic gonadotropin (hormone of placental origin), severity of the disease, gestational age at diagnosis and fetal gender. We found that the increased frequency of paternal origin of nondisjunction in trisomy 21-affected fetuses cannot obviously be explained by Factors leading to selective loss of paternal origin fetuses.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/08/20 alle ore 23:07:22