Bingol N, Fuchs M, Iosub S, Kumar S, Stone R K, Gromisch D S
Alcohol Clin Exp Res. 1987 Feb;11(1):42-4. doi: 10.1111/j.1530-0277.1987.tb01258.x.
Five cases of Down syndrome in association with fetal alcohol syndrome (FAS) are described. Four of the babies were full term, one was premature. Phenotypically these babies (3M:2F) had manifestations of both Down syndrome and FAS; growth deficiency was more pronounced than is expected in Down syndrome. All measurements, birth weight, length and head circumference were below -2 SD. All had congenital heart disease. Chromosome analysis confirmed 21 trisomy in every case. Down syndrome and FAS may occur together, at random, in 1 in 525,0000 newborns in United States but 1 in 200,000 in our institution. Estimated incidence of FAS and Down syndrome in our institution was 1 in 6,600, a 30-fold increase over the chance occurrence of these two conditions together. Mean age of mothers at delivery was 29.6 +/- 9.3, statistically similar to the mean ages of mothers who delivered Down syndrome and FAS babies in our two hospitals, but was significantly higher than the mean age of mothers in our general population (p less than 0.001). All study cases had chronic alcoholic mothers as well as maternal grandmothers, suggesting that there is an increased incidence of trisomy 21 in children of second generation of alcoholic mothers.
本文描述了5例唐氏综合征合并胎儿酒精综合征（FAS）的病例。其中4例婴儿为足月产，1例早产。从表型上看，这些婴儿（3男：2女）同时具有唐氏综合征和FAS的表现；生长发育迟缓比唐氏综合征患者预期的更为明显。所有测量指标，出生体重、身长和头围均低于-2标准差。所有患儿均患有先天性心脏病。染色体分析证实每例均为21三体。在美国，唐氏综合征和FAS可能随机同时发生，发生率为1/525000，但在我们机构为1/200000。据估计，我们机构中FAS和唐氏综合征的发生率为1/6600，这两种疾病同时发生的几率比随机发生率高出30倍。分娩时母亲的平均年龄为29.6±9.3岁，在统计学上与我们两家医院分娩唐氏综合征和FAS患儿的母亲平均年龄相似，但显著高于我们普通人群中母亲的平均年龄（p<0.001）。所有研究病例的母亲以及外祖母均有慢性酒精中毒史，提示酒精中毒母亲的第二代子女中21三体的发生率增加。
