Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
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具有表型异常和从头开始的明显平衡易位的女孩 46,XX,t(5;10)(q35.2q11.2)。
DOI：
10.1002/1096-8628(20010201)98:4
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
O. Bartsch
中科院分区：
文献类型：
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作者：
G. Zhu;G. Gillessen‐Kaesbach;J. Wirth;E. Passarge;O. Bartsch
我们描述了一个三岁的女孩，三角形的脸，上眦赘肉，面中部发育不全，明显的低耳，薄薄的朱红色边缘的小嘴，小下巴，关节过度活动，发育迟缓，步态不安全，运动障碍，语言缺陷，以及不明原因的营养不良史。她有一个全新的，明显平衡的易位t(5;10)（q35.2;q11.2）。使用荧光原位杂交（FISH），我们在YAC 753f5 （5q35.2）定义的1.5 mb区域以及10cen和YAC 933a3 （10q11.21）之间约2 mb的间隔内定位了断点。
We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).