CLONAL LINES OF ANEUPLOID CELLS IN ROTHMUND-THOMSON SYNDROME

被引：45

作者：

DERKALOUSTIAN, VM

MCGILL, JJ

VEKEMANS, M

KOPELMAN, HR

机构：

[1] MCGILL UNIV, SCH MED, DEPT PEDIAT, DIV GASTROENTEROL, MONTREAL H3A 2T5, QUEBEC, CANADA

[2] MCGILL UNIV, SCH MED, DEPT PEDIAT, DIV MED GENET, MONTREAL H3A 2T5, QUEBEC, CANADA

[3] MCGILL UNIV, SCH MED, DEPT PATHOL, DIV CYTOGENET, MONTREAL H3A 2T5, QUEBEC, CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 03期

关键词：

chromosome instability; karyotype; poikiloderma;

D O I：

10.1002/ajmg.1320370308

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17+der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY,+8 and 47,XY,+i(2q). His lymphocytes had a normal 46,XY pattern. These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.

引用

页码：336 / 339

页数：4

共 23 条

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