经常发生的Xp22.31-Yq11不平衡转位:在三个家族中的分子诊断和临床影响
Marwa Daghsni1,2, Elizabeth Sheehan1, Suneeta Madan-Khetarpal3
1Center for Medical Genetics, UPMC Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA.
American journal of medical genetics. Part A
|October 23, 2024
概括
涉及衍生X染色体 (derX) 的不平衡Xp-Yq转位使产前查和遗传诊断复杂化. 家庭测试和染色体微阵列分析对于准确的解释和遗传咨询至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 性染色体X和Y之间的不平衡转位是反复重排的.
- 衍生染色体X (derX) 的形成,涉及Yq11-qter段与Xp的附着,挑战了遗传解释.
- derX影响产前cfDNA查,基因型-表型相关性和遗传咨询.
研究的目的:
- 报告临床结果,遗传模式和derX在三个家族中的影响.
- 调查derX在异常cfDNA查结果和异常产前发现中的作用.
- 为了突出derX对重复妊娠损失和多代传播的影响.
主要方法:
- 临床病例报告三个家庭与derX.
- 诊断基因测试,包括染色体微阵列 (CMA).
- 家庭分离分析以追踪遗传.
主要成果:
- 在产前cfDNA查中不一致的性别结果是DerX的常见错误阳性.
- 受影响的家庭经历了重复的怀孕流产和新生儿死亡/死产,特别是男性后代.
- 不良结果的风险与被删除的Xp区域的大小没有直接相关.
结论:
- 在产前cfDNA查解释方面,derX带来了重大挑战.
- 确切诊断derX需要CMA和全面的家族测试.
- 对受derX影响的家庭来说,彻底的遗传咨询是必不可少的.
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