TRISOMY-13 (PATAU SYNDROME) WITH AN 11-YEAR SURVIVAL
TRISOMY-13 (PATAU SYNDROME) WITH AN 11-YEAR SURVIVAL
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DOI：
10.1111/j.1399-0004.1993.tb04426.x
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发表时间：
1993-01-01
影响因子：
3.5
通讯作者：
THORPE, B
中科院分区：
文献类型：
--
作者：
ZOLL, B;WOLF, J;THORPE, B
13三体在活产儿童中非常罕见。这些儿童中只有一小部分能在第一年存活下来，据报道，很少有病例能活得更长。存活时间部分取决于细胞遗传学的发现是否有13三体或13三体嵌合体，部分取决于是否存在严重的躯体畸形。我们报告一个11岁的女孩完全13三体。在这种情况下。脑和心血管性畸形的缺失可能使其得以长时间存活。
Trisomy 13 is very rare in live-born children. Only a small number of these children survive the first year and very few cases are reported to live longer. Survival time depends partly on the cytogenetic findings full trisomy 13 or trisomy 13 mosaicism - and partly on the existence of serious somatic malformations. We report on a 11-year-old girl with full trisomy 13. In this case. missing cerebral and cardiovascular malformations probably allowed the long survival.