Hustinx T W, Scheres J M, Geraedts J P, van Elteren P
Tijdschr Kindergeneeskd. 1986 Aug;54(4):101-6.
In 348 patients with Down syndrome (DS) born in the Netherlands in 1981 and 1982 chromosome studies had been performed before December 1st 1984. Prenatal chromosome studies had revealed 22 cases who could have been born in 1981 and 1982 taking into account a pregnancy duration of 40 weeks. DS rates are determined for five-yearly maternal age classes. These frequencies are compared with those from a reference group, consisting of a compilation of five epidemiological studies which are comparable in their way of presentation of the results and in the ascertainment of the DS cases. The most conspicuous finding in this comparison is that the frequency of DS among children of older mothers (greater than or equal to 40 years) in our study is relatively low. Therefore we presume that a number of patients born in the years 1981 and 1982, particularly from the maternal age groups 40-44 and greater than or equal to 45, are not (yet) referred for cytogenetic characterization. The great majority (+/- 90%) of the postnatally studied cases was presented within the first two months of life. In nearly 95% a standard trisomy 21 was detected and in about 5% a translocation or mosaicism.
对1981年和1982年出生在荷兰的348名唐氏综合征(DS)患者在1984年12月1日前进行了染色体研究。产前染色体研究发现,考虑到40周的妊娠期,有22例本可在1981年和1982年出生。按母亲年龄每5年一组确定DS发生率。将这些频率与一个参照组的频率进行比较,该参照组由五项流行病学研究汇编而成,这些研究在结果呈现方式和DS病例确定方面具有可比性。这次比较中最显著的发现是,在我们的研究中,年龄较大母亲(大于或等于40岁)的孩子中DS的频率相对较低。因此我们推测,1981年和1982年出生的一些患者,特别是来自40 - 44岁和大于或等于45岁母亲年龄组的患者,尚未被送去进行细胞遗传学特征分析。产后研究的绝大多数病例(约90%)在出生后的头两个月内就诊。近95%检测出标准的21三体,约5%检测出易位或嵌合体。