父源性平衡易位t（7；14）（q34;q32）致7号染色体长臂（q34-qter）部分三体一例  

A case with partial trisomy 7 （q34→qter）derived from a paternal reciprocal translocation t（7 ; 14） （q34 ; q32）

作　　者：肖冰[1] 季星[1] 蒋雯婷[1] 张静敏[1] 胡琴[1] 陶炯[1] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所,200092

出　　处：《中华医学遗传学杂志》2011年第6期654-657,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：上海市自然科学基金（09ZRl425600）

摘　　要：目的明确1例智力低下患儿染色体异常的性质和来源，分析其染色体改变与表型的对应关系。方法用常规G显带分析患儿及父母外周血的染色体改变，然后应用比较基因组杂交芯片（arraycomparativegenomichybridization，aCGH）常规核型分析结果进行精确定位。结果患儿父亲的染色体改变为7q和14q的平衡易位，患儿继承了父亲的1条衍生14号染色体，核型为46，XY，der（14）t（7；14）（q34；q32）pat，导致7q部分三体和14q部分单体。aCGH分析显示重复区域为7q34-qter，片段大小为17．09Mb，缺失区域为14q32．33-qter，片段大小为2．27Mb。患儿主要表现为智力低下、低出生体重、小鼻、腭裂、耳位低、短颈等7q部分三体常见的临床特征。结论7q部分三体是患儿异常表型的主要原因；父母染色体分析可以明确染色体异常的来源和性质。Objective To determine the origin of chromosomal aberrants in a mentally retarded children, and to correlate the karyotype with phenotype. Methods Routine G-banding were performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization （array CGH） were used for finely mapping the aberrant regions. Results The mother had a normal karyotype. The father had an apparently balanced translocation involving chromosome 7q and 14q, the karyotype was 46,XX,t（7;14）（q34;q32）, the karyotype of the child was then ascertained as 46,XX,der（14）t（7;14）（q34; q32.33） pat. Array CGH finely mapped the duplication to 7q34-qter, a 17.09 Mb region, and a very small associated deletion of distal chromosome 14 to 14q32. 33-qter, a 2. 27 Mb region. The patient presented some frequently seen features in partial trisomy 7q cases such as mental retardation, low birth weight, small nose, cleft palate, low-set ears and short neck. Conclusion This result suggested that partial trisomy 7q exert mainly phenotypic effect on the patient. Parental karyotype analysis could help define the aberrant type.

关 键 词：智力低下 7q部分三体 平衡易位 比较基因组杂交 

分 类 号：R749.94[医药卫生—神经病学与精神病学]