产前诊断的ectrodactyly-ectodermal发育不良裂综合征 - 一个案例报告与文献综述
Egle Savukyne1, Egle Machtejeviene1, Kotryna Bajeruniene1
1Department of Obstetrics and Gynecology, Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania.
Case reports in perinatal medicine
|March 5, 2025
概括
一个罕见的遗传性疾病 - - 截裂性ECTRODACTYLY-ECTODERMAL DYSPLASIA (EEC) 综合征,通过超声波和TP63基因测序在一个胎儿中被诊断出. 这一案例凸显了罕见疾病遗传检测的重要性.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 罕见疾病 罕见疾病
背景情况:
- 截肢性-外皮性形裂综合征 (EEC) 是一种罕见的遗传疾病,其特征是四肢形,外皮异常和面部裂.
- 这种综合征与TP63基因的突变有关,并遵循具有可变表达的自体主导遗传模式.
- 尽管有超过300个已记录的病例,但EEC综合征的确切病因仍然未知.
研究的目的:
- 报告一个在产前诊断的零星EEC综合征的独特病例.
- 为了证明先进的成像和分子遗传学在怀孕期间诊断EEC综合征的实用性.
主要方法:
- 在怀孕14周时进行常规的腹横超声检查,以选胎儿形.
- 16周后进行二维和三维超声波,以详细检查肢体和面部异常.
- 怀孕17周的诊断性羊膜切割用于基因分析.
- 从羊水中测序TP63基因的桑格测序,以确定致病变体.
主要成果:
- 超声检查显示,右手和右脚的胎儿赤口,以及口腔裂.
- 分子遗传测试证实TP63基因中存在异体合生病原体变异.
- EEC综合征的诊断是基于临床和遗传发现而建立的.
结论:
- 产前诊断EEC综合征是可行的通过先进的超声波和分子遗传检测的组合.
- 鉴定TP63基因变异有助于确认诊断并了解该综合征的遗传基础.
- 这一案例强调了在怀孕期间诊断罕见遗传疾病的挑战和重要性.
相关概念视频
01:33Cleavage and Blastulation
44.6K
After a large-single-celled zygote is produced via fertilization, the process of cleavage occurs while zygotes travel through the uterine tube. Cleavage is a mitotic cell division that does not result in growth. With each round of successive cell division, daughter cells get increasingly smaller.
44.6K
01:21Nondisjunction
3.7K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.7K
01:35Pedigree Analysis
83.7K
Overview
83.7K