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大4q13.2q21.23删除和结果的产前描述

Anna-Gaëlle Giguet-Valard¹, Christelle Thevenin², Sophie Dreux³

¹Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.

Molecular genetics & genomic medicine

|February 14, 2024

概括

这项研究详细介绍了一个大型的4q21微切除综合征病例,确定了诸如过多的胎液和生长问题等关键的产前症状. 通过产前超声波的早期检测可以帮助诊断这种复杂的基因组疾病.

科学领域:

遗传学遗传学是一个
基因组疾病基因组疾病
产前诊断在产前诊断

背景情况:

4q21微删除综合征是一种罕见的基因组疾病,具有特征的面部形,生长迟缓,智力缺陷和言语迟缓.
由于可变的删除类型,大小和断点,基因型-表型相关性具有挑战性.
子宫内生长迟缓是一种反复出现的产前特征,但精确的产前描述很少.

研究的目的:

报告4q13和4q21区域中最大的删除之一的第一个产前史.
为了更好地了解4q21微切除综合征的产前表现.

主要方法:

详细的产前历史报告.
在4q区域的一个大删除的遗传分析.

主要成果:

确定了16.9 Mb的删除,包括135个蛋白质编码基因,包括20个与神经和认知功能相关的OMIM病态基因.
删除断点重叠已知的微删除综合征集群在细胞遗传带4q13和4q21.
第二个三个月的产前发现包括过多的胎液,轻微的生长迟缓,短的长骨,四肢异常和凸起的脸.

结论:

产前超声波可以识别从第二季度开始的4q21微删除综合征的特定迹象.
建议在例行产前超声波中强调检查四肢和面部特征,以早期检测.
改善产前检测可以促进受影响个体的及时干预和管理.

关键词:

4q21 微删除综合征产前描述产前描述肢体极端的骨异常.产卵液过多的发生.充满脸的脸.短短的长长的骨头的骨头

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