An adult patient with a distal interstitial 14q deletion: Clinical report and literature review

被引：0
作者：
Spruijt, L
Van der Blij-Philipsen, M
Engelen, JJM
Schrander-Stumpel, CTRM
机构：
[1] Acad Hosp Maastricht, Dept Clin Genet, NL-6201 BL Maastricht, Netherlands
[2] St Joseph Hosp, Veldhoven, Netherlands
来源：
GENETIC COUNSELING | 2000年 / 11卷 / 04期
关键词：
interstitial 14q deletion; mental retardation;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
We report a patient with an interstitial 14q32.1-->q32.3 deletion and review the literature. The adult patient presented with moderate mental retardation, a friendly behavior and a non-specific phenotype. The deletion seemed to be terminal but with FISH probes appeared to be interstitial. Comparison with other 14q terminal and interstitial deletion patients reported in literature and those with a ring 14 chromosome is given.
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收藏
页码：335 / 340
页数：6
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