[一名22q部分三体综合征男孩的表型与基因分析]
[Phenotypic and genetic analysis of a boy with partial trisomy of 22q].
作者信息
Zhang Bo, Xu Ying, Kong Jinghui, Song Yinsen, Li Dongxiao
机构信息
Henan Provincial Key Laboratory for Inborn Errors of Metabolism in Children, Children's Hospital Affiliated of Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):532-534. doi: 10.3760/cma.j.issn.1003-9406.2020.05.009.
OBJECTIVE
To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.
METHODS
Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).
RESULTS
The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.
CONCLUSION
The de novo 22q12qter duplication probably underlies the abnormalities in the proband.
目的
明确一名患有智力障碍和多种先天性畸形男孩的染色体畸变的性质和起源。
方法
通过常规G显带分析确定先证者及其父母的染色体核型。还用单核苷酸多态性阵列（SNP阵列）分析了基因组DNA。
结果
先证者的核型为46,X,add(Y)(q11.23)。其父母均未检测到核型异常。SNP阵列已在先证者中鉴定出22q12qter处有一个21.6 Mb的新发重复。
结论
新发的22q12qter重复可能是先证者异常的原因。
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