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在产前临床表现和部分三胞胎症的遗传分析 12:一个病例报告
Nnenna Mbara1, Adegbenro O Fakoya2
1Obstetrics and Gynaecology, University of Medicine and Health Sciences, Basseterre, KNA.
Cureus
|September 23, 2024
概括
三胞胎症12,一种罕见的染色体异常,在产前查中提出了诊断挑战. 这一案例凸显了超声波,基因检测和多学科护理对管理各种胎儿表现的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 孕产妇和胎儿医学 孕产妇和胎儿医学
- 产前诊断 在产前诊断
背景情况:
- 三胞胎症12是一个罕见的染色体异常,具有可变的表型结果.
- 产前诊断因其表现的多样性和与其他疾病的重叠而复杂.
研究的目的:
- 报告一个 trisomy 12 的病例在产前被诊断出来.
- 强调先进的产前查和遗传诊断的作用.
主要方法:
- 在怀孕20周时进行例行产前超声波检查.
- 用于细胞遗传学分析的氨基酶检测.
- 系列超声波和遗传咨询.
主要成果:
- 超声波显示部的增加,肺溢液,紧的手,缩短的长骨,平坦的面部特征和脚.
- 细胞遗传学分析证实了偏远12q (12q21.2-12q24.33) 的部分三发症.
结论:
- 这一案例突出了三症12的诊断挑战和各种表现.
- 综合性产前查,遗传诊断和多学科管理对于受影响的怀孕至关重要.
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