Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.
Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.
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DOI：
10.3389/fgene.2021.731815
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发表时间：
2021
影响因子：
3.7
通讯作者：
Wang D
中科院分区：
文献类型：
--
作者：
Hu H;Zhang R;Ma Y;Luo Y;Pan Y;Xu J;Jiang L;Wang D
背景资料：染色体畸变有助于人类表型多样性和疾病易感性，但在临床上很难评估其致病作用。因此，报告与正常表型或临床异常相关的染色体畸变新病例具有重要价值。 方法：这是对7个携带21 q21.1-q21.2畸变的谱系的回顾性分析。用G显带和单核苷酸多态性芯片技术分析胎儿及其家庭成员的染色体核型和拷贝数变异。 结果：7个家系的胎儿及家系成员均为正常核型。在这里，它揭示了6个胎儿携带母系遗传的21 q21.1-q21.2重复，范围从1到2.7 Mb，但没有母亲有异常表型。结果发现1例胎儿存在8.7Mb的21q21.1-q21.2基因缺失，家系分析显示母亲、兄弟和外祖母也存在21q21.1-q21.2基因缺失，未发现异常表型。根据其表型，21q21.1-q21.2重复的携带者没有临床后果，并且21q21.1-q21.2缺失通过正常个体传递三代。这为21q21.1-q21.2重复和缺失的致病性评估提供了良性临床证据，这在以前的报告中被认为是一种意义不确定的变异和可能的致病性变异。
Background: Chromosomal aberrations contribute to human phenotypic diversity and disease susceptibility, but it is difficult to assess their pathogenic effects in the clinic. Therefore, it is of great value to report new cases of chromosomal aberrations associated with normal phenotypes or clinical abnormalities. Methods: This was a retrospective analysis of seven pedigrees that carried 21q21.1–q21.2 aberrations. G-banding and single-nucleotide polymorphism array techniques were used to analyze chromosomal karyotypes and copy number variations in the fetuses and their family members. Results: All fetuses and their family members showed normal karyotypes in seven pedigrees. Here, it was revealed that six fetuses carried maternally inherited 21q21.1–q21.2 duplications, ranging from 1 to 2.7 Mb, but none of the mothers had an abnormal phenotype. In one fetus, an 8.7 Mb deletion of 21q21.1–q21.2 was found. An analysis of the pedigree showed that the deletion was also observed in the mother, brother, and maternal grandmother, but no abnormal phenotypes were found. Conclusion: This study identified 21q21.1–q21.2 aberrations in Chinese pedigrees. The carriers of 21q21.1–q21.2 duplications had no clinical consequences based on their phenotypes, and the 21q21.1–q21.2 deletion was transmitted through three generations of normal individuals. This provides benign clinical evidence for pathogenic assessment of 21q21.1–q21.2 duplication and deletion, which was considered a variant of uncertain significance and a likely pathogenic variant in previous reports.
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