活产22三体综合征：病例报告与综述
Live-born trisomy 22: patient report and review.
作者信息
Heinrich T, Nanda I, Rehn M, Zollner U, Frieauff E, Wirbelauer J, Grimm T, Schmid M
机构信息
Department of Human Genetics, University of Würzburg, Würzburg, Germany.
出版信息
Mol Syndromol. 2013 Jan;3(6):262-9. doi: 10.1159/000346189. Epub 2013 Jan 11.
Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient's clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient's history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.
22三体是自然流产中常见的三体类型。相比之下，由于与该病症相关的严重器官畸形，活产的22三体极为罕见。在此，我们报告一例孕35 + 5周经剖宫产出生的患有完全性、非嵌合型22三体的男婴。在所有分析的中期相中，外周血淋巴细胞和成纤维细胞均显示额外一条22号染色体（47,XY,+22）。此外，阵列比较基因组杂交（array CGH）证实为完全性22三体。该患者的临床特征包括长头畸形、眼距增宽、鼻梁扁平、发育不良的耳朵伴耳前窦和赘生物、腭裂、肛门闭锁以及伴有阴囊分裂的冠状沟型尿道下裂。与患儿父母密切协作实施了必要的治疗。患儿于出生后29天因呼吸功能不全和肾功能恶化死亡。我们患者的病例补充了其他报告，表明患有完全性22三体的儿童可能存活至出生及以后。
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