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首页> 外文期刊>Molecular cytogenetics >Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array
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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

机译：SNP阵列染色体患者母体7.22mb缺失的产前诊断

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Background:Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic counselling. Terminal deletion of the long arm of chromosome 4 is a rare genetic aberration. Few cases of interstitial deletion sharing the common deleted segment have been reported.Case presentation:A male foetus with a 7.22-Mb deletion at chromosome 4q32.2q32.3 was found in the proband. The paternal genotype was normal. His asymptomatic mother with a normal phenotype and intelligence was found to carry the same deletion at the long arm of chromosome 4. The clinical significance of arr[GRCh37] 4q32.2q32.3(162858958_170081268)×1 remains uncertain. To the best of our knowledge, this is the first case report on a VUS of 4q32 deletion and the second report of a heterochromatic CNV involving part of the long arm of chromosome 4 in a phenotypically normal mother and child. The identification of this case contributes to additional understanding of deletion at 4q32.2q32.3. This report may provide a reference for prenatal diagnosis and genetic counselling in patients who have genotypes of similar cytogenetic abnormalities.Conclusions:The novel 7.22-Mb deletion at chromosome 4q32.2q32.3 (162858958-170081268) is a VUS. The foetus inherited this VUS from a phenotypically normal mother.? The Author(s) 2020.
机译：背景：虽然染色体微阵列分析（CMA）是一种用于检测染色体拷贝数变体（CNV）的强大诊断技术，但它检测到许多未知意义（VASS）的变种，这为遗传咨询构成了巨大挑战。染色体4的长臂的末端缺失是一种罕见的遗传像差。报告了分配共享常见缺失的段的短暂缺失的案例.Case介绍：在证书中发现了在染色体下缺失的雄性胎儿7q32.2q32.3。父权基因型正常。他的无症状母亲具有正常的表型和智力，在染色体的长臂上携带相同的缺失。ARR [GRCH37] 4Q32.2Q32.3（162858958_170081268）×1仍然不确定。据我们所知，这是第一个关于4Q32缺失的案例报告和涉及染色体4的一部分的异形CNV的第二次报告，在表型正常的母亲和儿童中。确定此案的识别有助于在第4季度删除额外了解.3。本报告可为具有相似细胞遗传学异常的基因型的患者提供产前诊断和遗传咨询的参考。结论：在染色体4q32.2q32.3（162858958-170081268）中的新型7.22mb缺失是VUS。胎儿继承了来自一位表型普通母亲的VUS。作者2020年。

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