Spruijt L, Engelen J J M, Bruinen-Smeijsters I P, Albrechts J C M, Schrander J, Schrander-Stumpel C T R M
Department of Clinical Genetics, University hospital Maastricht, Maastricht, The Netherlands.
Am J Med Genet A. 2004 Sep 1;129A(3):312-5. doi: 10.1002/ajmg.a.30185.
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.
我们报告了一例新发15q24q26.1间质性缺失的患者。她表现出发育迟缓、行为特征以及伴有非常蓝色虹膜的轻度畸形。我们回顾了关于15q间质性缺失的有限文献。文献中的这两例病例与本患者之间没有明显的表型重叠。为了确定可能可识别的15q24q26.1缺失表型，还需要更多报告。
