Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3

被引：8

作者：

Senzaki, H

Inui, M

Ban, S

Masutani, S

Morsy, M

Kobayashi, T

Nagasaka, H

Sasaki, N

Kyo, S

Yokote, Y

机构：

[1] Saitama Med Sch Hosp, Saitama Heart Inst, Dept Paediat Oncol, Moroyama, Saitama 3500495, Japan

[2] Saitama Med Sch Hosp, Dept Cardiovasc Surg, Moroyama, Saitama, Japan

[3] Saitama Med Sch Hosp, Dept Pathol, Moroyama, Saitama, Japan

[4] Tokyo Childrens Rehabil Hosp, Tokyo, Japan

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2003年 / 162卷 / 06期

关键词：

cardiomyopathy; chromosome; 3;

D O I：

10.1007/s00431-003-1160-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a case in which a 3-year-old girl with terminal deletion of the long arm of chromosome 3 had dilated cardiomyopathy, a complication that has not previously been reported in association with this chromosome abnormality. In addition to cardiomyopathy, she had intrauterine growth retardation, small eyes and mouth, a broad nose, thin lips, low-set ears, a short neck and overlapping second toes. Conclusion: due to the paucity of reported cases of 3q deletion, and the clinical variability of such cases, identification of a distinct 3q phenotype (including cardiac complications) remains elusive.

引用

页码：403 / 405

页数：3