[一例源自父源相互易位t(7;14)(q34;q32)的7号染色体部分三体（q34→qter）病例]

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

作者信息

Xiao Bing, Ji Xing, Jiang Wen-ting, Zhang Jing-min, Hu Qin, Tao Jiong

机构信息

Medical School of Shanghai Jiao Tong University, Shanghai Institute for Pediatric Research, Shanghai, People's Republic of China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):654-7. doi: 10.3760/cma.j.issn.1003-9406.2011.06.012.

DOI:10.3760/cma.j.issn.1003-9406.2011.06.012

PMID:22161098

Abstract

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.

摘要

目的

确定一名智力发育迟缓儿童染色体异常的来源，并将核型与表型相关联。

方法

采用常规G显带技术分析患者及其父母的核型，并使用阵列比较基因组杂交技术（array CGH）对异常区域进行精细定位。

结果

母亲核型正常。父亲有一条涉及7号染色体长臂和14号染色体长臂的明显平衡易位，核型为46, XX, t(7;14) (q34;q32)，患儿核型确定为46, XX, der(14) t(7;14) (q34;q32.33) pat。阵列比较基因组杂交技术将重复精细定位到7q34-qter，一个17.09 Mb的区域，以及14号染色体远端非常小的相关缺失至14q32.33-qter，一个2.27 Mb的区域。该患者表现出部分7号染色体长臂三体病例中常见的一些特征，如智力发育迟缓、低出生体重、小鼻子、腭裂、低位耳和短颈。