[一名患有8号染色体短臂倒位重复缺失男孩的表型和基因分析]
[Phenotypic and genetic analysis of a boy with inv dup del(8p)].
作者信息
Zhang Bo, Cui Weili, Zhang Zhenhua, Li Jingjie, Lyu Nan, Ma Caiyun, Shang Qing
机构信息
Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):581-584. doi: 10.3760/cma.j.cn511374-20200109-00020.
OBJECTIVE
To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.
METHODS
The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.
RESULTS
The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.
CONCLUSION
The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
目的
明确在一名智力发育迟缓男孩中检测到的染色体畸变的性质和起源。
方法
对先证者及其父母进行常规G带染色体核型分析和单核苷酸多态性阵列（SNP阵列）分析。
结果
先证者的核型确定为46, XX, add(8)(p23)。其父母均未检测到核型异常。SNP阵列在先证者中鉴定出8p23.1q11.1处有34.9 Mb的重复和8p23.1pter处有6.78 Mb的微缺失。父母双方均未检测到拷贝数变异。
结论
该患儿被诊断为8p倒位重复缺失综合征，可能是由8p23.1区域嗅觉基因之间的非等位同源重组引起的。
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