新发扩增导致的部分10号染色体长臂末端三体：一例手指和手掌无沟纹或嵴纹的新病例。
Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.
作者信息
Rahbarimanesh Aliakbar, Derakhshandeh-Peykar Pupak, Barkhordari Amirhassan, Ebrahimzadeh-Vesal Reza, Shamizadeh Kalkhoran Soja
机构信息
Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Bahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.; Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595; Medizinisch Genetisches Zentrum (MGZ), Munich, Germany, P.O. Box 201412.
出版信息
Rep Biochem Mol Biol. 2013 Apr;1(2):87-90.
BACKGROUND
Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations.
METHODS
Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).
RESULTS
Cytogenetic analysis (GTG-banding) revealed an unbalanced female karyotype with additional bands at the end of the long arm of chromosome 10, karyotype: 46,XX,dup(10)(q25q26).
CONCLUSION
According to the banding pattern it is most likely that a duplication of the distal part of the long arm of chromosome 10 occurred.
背景
在此我们描述了一名来自健康父母的6岁伊朗女孩患部分10号染色体长臂末端三体综合征的新病例，该女孩存在智力、生长和精神运动发育迟缓。
方法
其他临床特征包括颅面部畸形特征、小头畸形、双侧肾积水但无心脏问题、小且低位旋转耳、弓形嘴、牙齿异常、短颈，并且作为首例报道，手指有屈曲指（即手掌和手指无任何纹路或嵴）。
结果
细胞遗传学分析（GTG显带）显示一名女性核型不平衡，在10号染色体长臂末端有额外的条带，核型为：46,XX,dup(10)(q25q26)。
结论
根据显带模式，很可能发生了10号染色体长臂远端部分的重复。
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