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Titolo:
UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE
Autore:
WHITEFORD ML; COUTTS J; ALROOMI L; MATHER A; LOWTHER G; COOKE A; VAUGHAN JI; MOORE GE; TOLMIE JL;
Indirizzi:
DUNCAN GUTHRIE INST MED GENET,YORKHILL NHS TRUST GLASGOW G3 8SJ LANARK SCOTLAND GLASGOW ROYAL MATERN HOSP GLASGOW G4 0NA LANARK SCOTLAND QUEEN CHARLOTTES & CHELSEA HOSP,ROYAL POSTGRAD MED SCH,INST OBSTET & GYNAECOL LONDON W6 0XG ENGLAND
Titolo Testata:
Prenatal diagnosis
fascicolo: 6, volume: 15, anno: 1995,
pagine: 579 - 584
SICI:
0197-3851(1995)15:6<579:UIFCIA>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
MATERNAL HETERODISOMY; MOSAIC TRISOMY-16; DISOMY; HUMANS;
Keywords:
MATERNAL ISODISOMY; CHROMOSOME 16; GROWTH RETARDATION; A-V CANAL DEFECT;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
M.L. Whiteford et al., "UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE", Prenatal diagnosis, 15(6), 1995, pp. 579-584

Abstract

We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canaldefect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 16:00:25