Trisomy 13 in a four-year-old boy

被引：0
|
作者：
Rauch, F
vanKoningsbruggen, S
Leonard, JV
Michalk, D
机构：
来源：
MONATSSCHRIFT KINDERHEILKUNDE | 1997年 / 145卷 / 05期
关键词：
chromosomal aberration; psychomotor delay; trisomy; 13;
D O I：
10.1007/s001120050145
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The case of a four-year old boy with trisomy 13 is described. The boy does not have detectable cardiac or cerebral malformations. However, he suffers from severe psychomotor delay, muscular hypotonia, cerebral convulsions, bilateral buphthalmos and bilateral optic nerve atrophy. Trisomy 13 was detected in all mitoses analysed in lymphocytes and in skin fibroblasts. Discussion: This case should serve as a reminder that trisomy 13 is compatible with long-term survival.
引用
收藏
页码：482 / 484
页数：3
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