Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication
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目的 明确1例智力低下、语言发育迟缓及自闭症患儿的遗传学病因。 方法 选取2019年6月30日于泉州市妇幼保健院就诊的1例罕见8p部分缺失伴重复患儿为研究对象。采集患儿及其父母的外周血样，进行G显带染色体核型分析以及单核苷酸多态性微阵列(SNP-array)检测。 结果 患儿核型为46，XX，dup(8p？)，其父母均未见明显异常。SNP-array检测显示患儿染色体8p23.3p23.1区存在6.8 Mb的片段缺失，8p23.1p12区存在21.8 Mb的片段重复，上述拷贝数变异均为新发，并判断为致病变异。 结论 患儿的临床表型与染色体8p部分缺失重复相关，SNP-array检测对智力低下的患儿的诊断具有一定的价值。 Objective To explore the genetic etiology for a child featuring mental retardation, language delay and autism. Methods G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. Results The child was found to have a 46, XX, dup(8p? ) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. Conclusion The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
Objective To explore the genetic etiology for a child featuring mental retardation, language delay and autism. Methods G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. Results The child was found to have a 46, XX, dup(8p? ) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. Conclusion The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
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