A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

被引:6
作者
Spruijt, L
Engelen, JJM
Bruinen-Smeijsters, IP
Albrechts, JCM
Schrander, J
Schrander-Stumpel, CTRM
机构
[1] Univ Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands
[2] Univ Hosp Maastricht, Dept Pediat, Maastricht, Netherlands
[3] Maastricht Univ, GROW, Maastricht, Netherlands
关键词
developmental delay; chromosome region 15q24 -> 15q26.1 monosomy;
D O I
10.1002/ajmg.a.30185
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present patient. Additional reports are necessary in order to establish a possible recognizable deletion 15q24q26.1 phenotype. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:312 / 315
页数:4
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