Moore Charleen M, Hubbard Gene B, Dick Edward, Dunn Betty G, Raveendran Muthuswamy, Rogers Jeffrey, Williams Vick, Gomez Jeremiah J, Butler Stephanie D, Leland M Michelle, Schlabritz-Loutsevitch Natalia E
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229-3900, USA.
Am J Primatol. 2007 Oct;69(10):1105-18. doi: 10.1002/ajp.20424.
Trisomy 13 in humans is the third most common autosomal abnormality at birth, after trisomy 21 and trisomy 18. It has a reported incidence of between 1:5,000 and 1:30,000 live births. It is associated with multiple abnormalities, many of which shorten lifespan. We describe here the first reported case of a baboon (Papio hamadryas) with trisomy of chromosome 17, which is homologous to human chromosome 13. The trisomic infant was born to a consanguineous pair of baboons and had morphological characteristics similar to those observed in human trisomy 13, including bilateral polydactyly in the upper limbs, a patent foramen ovale, and pyelectasis. Molecular DNA analysis using human chromosome 13 markers was consistent with the affected infant inheriting two copies of chromosome 17 derived from the same parental chromosome. This trisomy was, therefore, due to either an error in meiosis II or the result of postzygotic nondisjunction. The parental origin, however, could not be determined.
人类13三体综合征是出生时第三常见的常染色体异常，仅次于21三体综合征和18三体综合征。据报道，其在活产婴儿中的发病率为1/5000至1/30000。它与多种异常有关，其中许多会缩短寿命。我们在此描述了第一例被报道的患有17号染色体三体的狒狒（阿拉伯狒狒），该染色体与人类13号染色体同源。这只三体幼崽出生于一对近亲繁殖的狒狒，其形态特征与人类13三体综合征中观察到的相似，包括上肢双侧多指畸形、卵圆孔未闭和肾盂积水。使用人类13号染色体标记进行的分子DNA分析表明，患病婴儿继承了来自同一亲本染色体的两份17号染色体拷贝。因此，这种三体性要么是减数分裂II期出错的结果，要么是合子后不分离的结果。然而，亲本来源无法确定。
