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艾曼纽尔综合征:一个病例报告与隔离的部半透明度加厚

Bondarenko Maya¹, Nikolenko Marharyta², Dutchak Anastasiia¹

¹Department of Medical Biology and Medical Genetics, Ivano-Frankivsk National Medical University, 2 Galitska Str., Ivano-Frankivsk 76000, Ukraine.

Case reports in genetics

|October 17, 2025

概括

艾曼纽尔综合征是一种罕见的染色体疾病,可能在头三个月内单独呈现出额透光 (NT) 的增加. 这一发现可能是唯一的产前指标,需要进一步的研究,以便早期诊断.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
医学遗传学医学遗传学

背景情况:

艾曼纽尔综合征是一种罕见的染色体疾病,具有严重的发育障碍.
先天性异常很常见,但缺乏明确的产前模式.
当结构缺陷在产前无法检测到时,软超声波标记可能至关重要.

研究的目的:

报告一个艾曼纽尔综合征病例,单独增加部透光度 (NT).
讨论NT作为伊曼纽尔综合征的产前标记物的潜在作用.
突出需要在伊曼纽尔综合征诊断中对NT进行进一步研究.

主要方法:

一个被诊断患有伊曼纽尔综合征的患者的病例报告.
第一个三个月的超声波来评估NT.
细胞遗传学和FISH分析用于染色体确认.
关于伊曼纽尔综合征第一季度发现的文献综述.

主要成果:

该病例呈现出在头三个月内单独增加NT (3.2毫米),没有结构形.
产后评估显示严重的低血压,形特征和发育迟缓.
细胞遗传学和FISH证实了额外的Der22t11;22染色体.

结论:

孤立的NT加厚可能是艾曼纽尔综合征的唯一产前症状.
在其他艾曼纽尔综合征病例中观察到NT增加,但数据不足以确定预测值.
需要进一步的研究来确定NT在早期诊断中的敏感性和特异性.

关键词:

艾曼纽尔综合征是什么意思额头的半透明度额头的半透明度在产前诊断产前诊断

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