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- W3028642003 abstract "目的分析1例精神发育迟滞患儿家系，探讨患儿的临床表型与遗传学变异之间的关系，实施该患儿母亲妊娠胎儿的产前遗传学诊断。 方法采用常规外周血染色体核型、光谱核型分析及单核苷酸多态微阵列芯片技术对患儿及其母亲进行遗传学检查，准确了解其携带的染色体不平衡易位的位置和大小。在此基础上对患儿母亲的妊娠胎儿实施产前诊断。 结果光谱核型分析显示，患儿存在10号染色体和17号染色体的不平衡易位，异常17号染色体的衍生片段为10q26，来源于携带平衡易位的母亲。经单核苷酸多态微阵列芯片检测，患儿存在10q26.13-10q26.3的重复，大小为9.74 Mbp，以及17p13.3的缺失，大小为1.68 Mbp。该患儿存在的17p13.3微缺失片段，包含了Miller-Dieker综合征的关键区域，涉及YWHAE和CRK基因，但不包括PAFAH1B1基因。患儿存在严重的精神发育异常，生长发育迟缓，轻微的面部异常，其临床表现类似于已报道的17p13.3微缺失患者，考虑为Miller-Dieker综合征。再次妊娠胎儿羊水遗传学分析，其携带与患儿同样的不平衡易位，诊断为潜在的Miller-Dieker综合征。 结论光谱核型分析及单核苷酸多态微阵列芯片分析技术的结合有助于精准鉴别此例染色体核型异常的性质，为准确开展产前诊断提供了依据。" @default.
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- W3028642003 date "2017-06-16" @default.
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- W3028642003 title "Identification of a 17p13.3 microdeletion and 10q26.13-26.3 duplication in one family with mental retardation and developmental delay" @default.
- W3028642003 doi "https://doi.org/10.3760/cma.j.issn.1007-9408.2017.06.003" @default.
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