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本文报道1例3号染色体长臂部分三体的产前诊断病例。孕妇无创DNA提示3号染色体三倍体高风险,羊水细胞染色体核型分析结果为46,XN,der(15)t(3;15)(q24;p13)dn,染色体微阵列分析结果提示染色体3q24qter区段检出51.56 Mb重复,为致病性。夫妻双方外周血染色体均未见异常,故判定此遗传变异为新发突变。经遗传咨询,孕妇决定继续妊娠,并于孕38+3周分娩1男婴。随访至出生后1月余,该男婴因心脏异常、心衰夭折。本文就该患者临床表现及产前诊断过程展开讨论,旨在为该疾病产前诊断提供参考。
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基本信息:
中图分类号:R714.5
引用信息:
[1]王天姝,姜洪旭,龙平,等.一例3q24qter部分三体的产前诊断病例报道[J].生殖医学杂志,2025,34(03):389-393.
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