RING CHROMOSOME-16

被引:10
作者
NEIDENGARD, L
SPARKES, RS
机构
[1] TRI COUNTIES REG CTR, 1428 PHILLIPS LANE, SUITE 203, SAN LUIS OBISPO, CA 93401 USA
[2] UNIV CALIF LOS ANGELES, SCH MED, DEPT PSYCHIAT, LOS ANGELES, CA 90024 USA
[3] UNIV CALIF LOS ANGELES, SCH MED, DEPT MED, DIV MED GENET, LOS ANGELES, CA 90024 USA
[4] UNIV CALIF LOS ANGELES, SCH MED, DEPT PEDIAT, LOS ANGELES, CA 90024 USA
关键词
D O I
10.1007/BF00293072
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Ring chromosome 16 was found in a 33-yr-old woman with mental, motor and growth defects. Apart from a low percentage of monosomy 16 cell lines, the patient appears to have virtually all of the normal chromosome 16 genetic material at the microscopic level. Her impressive problems highlight the limitation of the ability to detect small deletions and the profound importance of the integrity of chromosome 16 in normal human development.
引用
收藏
页码:175 / 177
页数:3
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