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

来源：

JOURNAL OF MEDICAL GENETICS | 1972年 / 9卷 / 04期

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

页码：413 / 421

页数：9

共 10 条

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[8] PATAUS SYNDROME WITH D1-DUPLICATION-DEFICIENCY DERIVED FROM A MATERNAL D-GROUP PERICENTRIC INVERSION [J].

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[10] CEREBRAL GIGANTISM IN CHILDHOOD - SYNDROME OF EXCESSIVELY RAPID GROWTH WITH ACROMEGALIC FEATURES + NONPROGRESSIVE NEUROLOGIC DISORDER [J].

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