PERICENTRIC INVERSION OF CHROMOSOME NO 13 IN A LARGE FAMILY LEADING TO DUPLICATION DEFICIENCY CAUSING CONGENITAL MALFORMATIONS IN 3 INDIVIDUALS

被引:48
作者
HAUKSDOTTIR, H
HALLDORSSON, S
JENSSON, O
MIKKELSEN, M
MCDERMOTT, A
机构
[1] JOHN F KENNEDY INST, COPENHAGEN, DENMARK
[2] UNIV CALGARY, CALGARY 42, ALBERTA, CANADA
[3] UNIV ICELAND, DEPT PATHOL, CYTOGENET LAB, REYKJAVIK, ICELAND
[4] UNIV HOSP ICELAND, PAEDIAT DEPT, REYJAVIK, ICELAND
[5] HOME FOR MENTALLY RETARDED, KOPAVOGUR, ICELAND
[6] ST JOSEPHS HOSP, DEPT PAEDIAT, REYJAVIK, ICELAND
[7] UNIV ICELAND, DEPT PATHOL, GENET COMMITTEE, REYJAVIK, ICELAND
关键词
D O I
10.1136/jmg.9.4.413
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:413 / 421
页数:9
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