Su Pen-Hua, Chen Jia-Yuh, Chen Suh-Jen, Tsao Teng-Fu, Lai Yu-Jie
Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Pediatr Neonatol. 2008 Oct;49(5):189-92. doi: 10.1016/S1875-9572(09)60007-3.
We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation.
我们报告了一例7号染色体长臂末端缺失患者的临床、细胞遗传学和影像学检查结果。这名11岁女孩有智力发育迟缓、小头畸形、面容独特、手脚相对较小以及骶骨发育不全。高分辨率GTG显带（550 - 850条带）显示7号染色体长臂末端缺失。在对伴有智力发育迟缓的骶骨发育不全病例进行潜在诊断时，应考虑对相关畸形和整体临床表现进行详细评估。
