U-TYPE EXCHANGE IN A PARACENTRIC INVERSION AS A POSSIBLE MECHANISM OF ORIGIN OF AN INVERTED TANDEM DUPLICATION OF CHROMOSOME-8

被引：28

作者：

MITCHELL, JJ

VEKEMANS, M

LUSCOMBE, S

HAYDEN, M

WEBER, B

RICHTER, A

SPARKES, R

KOJIS, T

WATTERS, G

KALOUSTIAN, VMD

机构：

[1] MONTREAL CHILDRENS HOSP, DIV MED GENET, MONTREAL H3H 1P3, PQ, CANADA

[2] MONTREAL CHILDRENS HOSP, DIV CYTOGENET, MONTREAL, PQ, CANADA

[3] MONTREAL CHILDRENS HOSP, DIV NEUROL, MONTREAL, PQ, CANADA

[4] MCGILL CTR HUMAN GENET, MONTREAL, PQ, CANADA

[5] HOP STE JUSTINE, SERV GENET MED, MONTREAL, PQ, CANADA

[6] UNIV BRITISH COLUMBIA, DEPT MED GENET, VANCOUVER, BC, CANADA

[7] UNIV CALIF LOS ANGELES, CTR HLTH SCI, DEPT MED, LOS ANGELES, CA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 04期

关键词：

CONGENITAL MALFORMATIONS; INV DUP (8); DYSMORPHIC FEATURES;

D O I：

10.1002/ajmg.1320490406

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to 8p22, did not differ from controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undetected deletion of that segment. We propose that the inverted tandem duplication/deletion arose as a single U-type exchange within an inversion loop. (C) 1994 Wiley-Liss, Inc.

引用

页码：384 / 387

页数：4

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