两名患有独眼畸形的婴儿出现13三体综合征。
Trisomy 13 in two infants with cyclops.
作者信息
Fujimoto A, Ebbin A J, Towner J W, Wilson M G
出版信息
J Med Genet. 1973 Sep;10(3):294-6. doi: 10.1136/jmg.10.3.294.
Abstract
Two infants with cyclops malformation were born at the University of Southern California Medical Center during the past three years. The karyotypes of both infants demonstrated an extra chromosome No. 13: one with 47,XX,+13 and one with 46,XX,-14,+t(13q14q). The physical findings, karyotypes with trypsin-Giemsa banding, and association of trisomy 13 syndrome with cyclops malformation are presented.
摘要
在过去三年中，两名患有独眼畸形的婴儿在南加州大学医学中心出生。两名婴儿的核型均显示额外的13号染色体：一名为47,XX,+13，另一名为46,XX,-14,+t(13q14q)。本文介绍了其体格检查结果、胰蛋白酶-吉姆萨带型核型以及13三体综合征与独眼畸形的关联。
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