Pantelakis S N, Chryssostomidou O M, Alexiou D, Valaes T, Doxiadis S A
Arch Dis Child. 1970 Feb;45(239):87-92. doi: 10.1136/adc.45.239.87.
Among 10,412 livebom infants surveyed in a large maternity hospital in a 2-year period, there were 13 cases (0.13%) of discrepancy between sex phenotype and sex chromatin (0.15% among male infants and 0.10% among female infants). There were 22 cases of trisomy-21 (incidence 0.21%), 3 cases of trisomy-18, and 1 case of trisomy-13-15. 9 cases presented multiple congenital abnormalities but the karyotype was normal. Only the incidence of cases with Down's syndrome is higher than that reported in the literature. Maternal and paternal age, seasonal clustering, infectious diseases before or at the beginning of pregnancy, and x-ray exposure of parents, showed no correlation with Down's syndrome. Among the cases of Down's syndrome there was a significantly higher maternal and paternal mean age and a maternal history of infectious hepatitis was more frequent.
在一家大型妇产医院对10412名活产婴儿进行的为期两年的调查中，有13例（0.13%）性表型与性染色质不一致（男婴中为0.15%，女婴中为0.10%）。有22例21-三体综合征（发病率0.21%），3例18-三体综合征，1例13-15-三体综合征。9例表现出多种先天性异常，但核型正常。只有唐氏综合征病例的发病率高于文献报道。母亲和父亲的年龄、季节聚集性、怀孕前或怀孕初期的传染病以及父母的X线照射，均与唐氏综合征无相关性。在唐氏综合征病例中，母亲和父亲的平均年龄显著更高，且母亲有传染性肝炎病史的情况更常见。
