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CONFIRMATION OF A SUSPECTED 16Q DELETION IN A DYSMORPHIC CHILD BY FLOW KARYOTYPE ANALYSIS

被引：24
作者：
COOKE, A
TOLMIE, J
DARLINGTON, W
BOYD, E
THOMSON, R
FERGUSONSMITH, MA
机构：
[1] YORKHILL HOSP, DUNCAN GUTHRIE INST MED GENET, YORKHILL, GLASGOW G3 8SJ, SCOTLAND
[2] DUMFRIES & GALLOWAY ROYAL INFIRM, DUMFRIES, SCOTLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1987年 / 24卷 / 02期
关键词：
D O I：
10.1136/jmg.24.2.88
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Cytogenetic examination of a dysmorphic infant with multiple congenital abnormalities revealed a possible de novo interstitial deletion in the long arm of chromosome 16. Conclusive proof of the deletion was obtained by flow karyotype analysis of the patient and both parents, which showed that the deleted segment was approximately 7000 kb in size.
引用
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页码：88 / 92
页数：5
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