Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.
Am J Med Genet
; 38(4): 626-9, 1991 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-2063908
ABSTRACT
From April, 1976, to December, 1988, the Spanish Collaborative Study of Congenital Malformations (ECEMC) monitored a total population of 710,815 liveborn infants in 16 of 17 Spanish Regions and identified 14,439 (2.0%) with congenital defects. Among the malformed children, we identified 73 with well recognized autosomal recessive syndromes, for an overall prevalence rate of 10.3 per 100,000 livebirths and a total carrier frequency of 1/49. Considering the Spanish Regions (Comunidades Autónomas), we analyzed the geographical distributions of these syndromes that were homogeneous. We studied the place of birth of the grandparents to determine the distribution of the gene as well as the gene flow.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Genes Recessivos
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
País/Região como assunto:
Europa
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1991
Tipo de documento:
Article
País de afiliação:
Espanha