一名患有中脑导水管周围灰质/智力障碍的女孩出现新发亚末端10号染色体短臂三体和18号染色体长臂单体：病例报告及文献复习
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
作者信息
Courtens Winnie, Wuyts Wim, Scheers Stefaan, Van Luijk Rob, Reyniers Edwin, Rooms Liesbeth, Ceulemans Berten, Kooy Frank, Wauters Jan
机构信息
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
出版信息
Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. doi: 10.1016/j.ejmg.2006.01.001. Epub 2006 Jan 30.
We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus specific RP11 BAC probes and analyses with microsatellites revealed that the translocation resulted in a deletion estimated between 6 and 9 Mb on the maternal chromosome 18 and a subtelomeric 10p duplication of approximately 6.9 Mb. The proband's karyotype is 46,XX.ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed.
我们报告了一名3岁女童，她有精神运动发育迟缓、心脏病、斜视、脐疝和面部畸形，通过多重连接依赖探针扩增（MLPA）和荧光原位杂交（FISH）分析发现了一种新发的不平衡亚微观易位（10p；18q）。使用基因座特异性RP11细菌人工染色体（BAC）探针进行的额外FISH研究以及微卫星分析显示，该易位导致母源18号染色体上估计有6至9兆碱基（Mb）的缺失以及10号染色体短臂（10p）约6.9 Mb的亚端粒重复。先证者的核型为46,XX。ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter)。到目前为止，10号染色体短臂的亚端粒重复以及18号染色体长臂的亚端粒缺失鲜有报道。本文对该患者的临床表型进行了回顾和讨论。
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