Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation

被引：0

作者：

Mdzin, R. ^{[1
]}

Ko, C. ^{[1
]}

Latif, Abdul Z.

Zakaria, Z. ^{[2
]}

机构：

[1] Hosp Univ Kebangsaan Malaysia, Fac Med, Dept Pathol, Kuala Lumpur 56000, Malaysia

[2] Inst Med Res, Haematol Unit, Kuala Lumpur 55000, Malaysia

来源：

SINGAPORE MEDICAL JOURNAL | 2008年 / 49卷 / 11期

关键词：

4q interstitial deletion; chromosome abnormality; intersitial deletion; mental retardation; paternal dislocation; short stature;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

引用

页码：E336 / E339

页数：4

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