有7q11.23微复制综合征的胎儿的子宫内表型特征
Yunan Wang1,2, Chang Liu1,2, Rong Hu1,2
1Medical Genetic Center, Guangdong Women and Children Hospital, NO.521-523, Xingnan Road, Panyu District, Guangzhou, 511442, Guangdong, People's Republic of China.
Orphanet journal of rare diseases
|September 27, 2023
概括
7q11.23微复制综合征的产前诊断揭示了不同的胎儿表型. 腹腔大和低矮的骨是最常见的,突出了早期检测的关键特征.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿的发育 胎儿的发育
背景情况:
- 7q11.23微复制综合征是一种具有可变临床表现的遗传性疾病.
- 准确的产前诊断对于遗传咨询和管理至关重要.
研究的目的:
- 描述7q11.23微复制综合征的产前诊断经验.
- 划分与这种综合征相关的胎儿表型的谱.
主要方法:
- 通过染色体微阵列 (CMA) 诊断的七个产前病例的回顾性分析.
- 对临床数据的审查,包括母亲的特征,超声波发现和怀孕结果.
主要成果:
- 确定了7例dup7q11.23综合征病例,其中包括双胞胎.
- 常见的产前超声波发现包括心室巨,低的骨,以及扩张的上升大动脉.
- 复制在某些情况下从无症状的母亲遗传.
结论:
- 7q11.23微复制综合征的产前特征是多样化的.
- 腹腔巨和低的骨圆是最常见的子宫内表型.
- 口腔裂,大动脉扩张和脏异常需要在产前评估中考虑.
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