Martínez-Frías M L, Cereijo A, Bermejo E, López M, Sánchez M, Gonzalo C
Estudio Colaborativo Español de Malformaciones Congénitas, ECEMC, Hospital Universitario San Carlos, Facultad de Medicina, Madrid, Spain.
Am J Med Genet. 1991 Mar 15;38(4):622-5. doi: 10.1002/ajmg.1320380424.
Using a sample of 710,815 liveborn infants throughout Spain, monitored from April, 1976, to December, 1988, by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we estimated the prevalence of each recognized autosomal dominant malformation syndrome for a total prevalence figure of 12.1 per 100,000 live births, including all detected autosomal dominant malformations syndromes. We estimated that the mutation rate for those syndromes was 48.5 per 1,000,000 gametes. The geographical distribution of these syndromes was homogeneous in the Spanish Regions.
利用西班牙先天性畸形协作研究（ECEMC）于1976年4月至1988年12月期间监测的西班牙710,815例活产婴儿样本，我们估算了每一种已确认的常染色体显性畸形综合征的患病率，得出每100,000例活产婴儿中总患病率为12.1，其中包括所有检测到的常染色体显性畸形综合征。我们估计这些综合征的突变率为每1,000,000个配子中有48.5个。这些综合征在西班牙各地区的地理分布是均匀的。
