MICROSCOPIC NEUROBLASTOMA IN A FETUS WITH A DE-NOVO UNBALANCED TRANSLOCATION-3,10

被引:10
|
作者
QURESHI, F
JACQUES, SM
JOHNSON, MP
REICHLER, A
EVANS, MI
机构
[1] HUTZEL HOSP,DEPT OBSTET & GYNECOL,DETROIT,MI 48201
[2] WAYNE STATE UNIV,DETROIT,MI
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 01期
关键词
MICROSCOPIC NEUROBLASTOMA; CHROMOSOMAL ABNORMALITY; PARTIAL DUPLICATION 3Q;
D O I
10.1002/ajmg.1320530106
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a fetus with a de novo unbalanced translocation 3;10 and a microscopic neuroblastoma. The fetus had the karyotypic and phenotypic manifestations of partial dup (3q). The finding of a constitutional chromosomal abnormality and a microscopic neuroblastoma, although possibly coincidental, supports Knudson's two hit hypothesis for development of neuroblastomas and other embryonal tumors. In this case the first mutation is represented by the constitutional abnormality, possibly resulting in the microscopic neuroblastoma. A second mutation affecting the abnormal cells, which may be more prone to mutagenesis, may trigger a neuroblastoma. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:24 / 28
页数:5
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