RING-20 CHROMOSOME IN A CHILD WITH SEIZURES, MINOR ANOMALIES, AND RETARDATION

被引:24
作者
STEWART, JM
CAVANAGH, N
HUGHES, DT
机构
[1] HOSP SICK CHILDREN,DEPT NEUROL,LONDON WC1N 3JH,ENGLAND
[2] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND
关键词
D O I
10.1136/adc.54.6.477
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration had seizures and behavioral disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counseling.
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收藏
页码:477 / 479
页数:3
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