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Am J Hum Genet. 1980 Nov;32(6):849-58.
Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.
13三体综合征（帕陶综合征）在新生儿中较为罕见。本文回顾了17项独立研究中167,774例活产儿的发病率数据，得出以下合并发病率：（1）47，13三体，8.3×10⁻⁵（1/12,000）；（2）46，（D/13罗伯逊易位），4.2×10⁻⁵（1/24,000）——突变体，1.2×10⁻⁵（1/80,000）至1.8×10⁻⁵（1/56,000）；家族性病例，2.4×10⁻⁵（1/42,000）至3.0×10⁻⁵（1/33,000）。活产儿中13三体（47，+13）的发病率（忽略研究中可能存在的偏差和发病率的异质性），在95%置信区间内为4.6×10⁻⁵（1/21,700）至14.0×10⁻⁵（1/7,000），最可能的数字接近8×10⁻⁵（1/12,000）。数据不足以构建易位病例的类似狭窄置信区间。47，+13的发病率在以下情况中可能更高：（1）自然流产儿，约0.8% - 1.0%（比活产儿高100倍）；（2）早期新生儿死亡，约0.4%（比活产儿高50倍）；（3）羊膜穿刺术检测到的病例，至少对于40岁及以上的母亲，发病率高于活产儿。
