4 NEW CASES OF INVERTED TERMINAL DUPLICATION - A MODIFIED HYPOTHESIS OF MECHANISM OF ORIGIN

被引：39

作者：

HOO, JJ

CHAO, M

SZEGO, K

RAUER, M

ECHIVERRI, SC

HARRIS, C

机构：

[1] RUSH PRESBYTERIAN ST LUKES MED CTR,RUSH MED LAB,CHICAGO,IL

[2] RUSH PRESBYTERIAN ST LUKES MED CTR,DEPT PEDIAT,CHICAGO,IL

[3] COOK CTY HOSP,DEPT PEDIAT,CHICAGO,IL

[4] COOK CTY HOSP,DEPT PATHOL,CHICAGO,IL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 04期

关键词：

INVERTED TANDEM DUPLICATION; INVERTED TERMINAL DUPLICATION; TERMINAL BAND; TELOMERIC DELETION; U-TYPE REUNION; DE NOVO DUPLICATION;

D O I：

10.1002/ajmg.1320580402

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band, Based on these 4 cases and review of the literature, the term ''inverted terminal duplication'' is proposed to designate specifically the type of inverted tandem duplication which involves the terminal band, A modification of the previous hypothesis of mechanism of origin is advanced, It is speculated further that a telomeric deletion of a meiotic chromosome followed by a U-type reunion of the chromatids, considered to be the first steps of the proposed mechanism of origin, may not be a rare gonadal event. (C) 1995 Wiley-Liss, Inc.

引用

页码：299 / 304

页数：6

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