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Titolo:
HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994
Autore:
WHITEFORD ML; TOLMIE JL;
Indirizzi:
DUNCAN GUTHRIE INST MED GENET,YORKHILL NHS TRUST GLASGOW G3 8SJ LANARK SCOTLAND
Titolo Testata:
Journal of Medical Genetics
fascicolo: 7, volume: 33, anno: 1996,
pagine: 578 - 584
SICI:
0022-2593(1996)33:7<578:HITWOS>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Keywords:
HOLOPROSENCEPHALY; FREQUENCY; RECURRENCE RISK;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
M.L. Whiteford e J.L. Tolmie, "HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994", Journal of Medical Genetics, 33(7), 1996, pp. 578-584

Abstract

Cases of holoprosencephaly which occurred in the west of Scotland over the past 20 years were ascertained from genetics, paediatric, and pathology department records. Fifty cases were identified of which 17 had an underlying cytogenetic abnormality. Of the remaining 33 cases, 26were delivered after 28 weeks' gestation giving a birth prevalence of1 in 26 730. Twenty-one babies were liveborn and nine children are currently alive. All survivors are profoundly mentally retarded and mosthave seizures. Twenty-eight patients with non-chromosomal holoprosencephaly had a total of 23 sibs and three families were identified wherethere was either recurrence of holoprosencephaly (one family), a related cerebral malformation (one family), or mental handicap (one family) giving an overall recurrence risk for serious neurological disability of 12% (standard error 7%). We conclude that holoprosencephaly does not necessarily breed true and this observation should be taken into account when giving genetic counselling and attempting ultrasound prenatal diagnosis after the birth of an affected child.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 18:18:24