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Updated: Jul 4, 2025

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Assessment of Child Anthropometry in a Large Epidemiologic Study
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基因检测的孩子与家族高个体:这是值得做吗?
Katerina Gregorova1, Lukas Plachy1, Petra Dusatkova1
1Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 5, 150 06, Czech Republic.
The Journal of clinical endocrinology and metabolism
|February 2, 2024
概括
家庭高身材 (FTS) 可能有潜在的遗传原因,而不仅仅是多基因的. 建议对所有患有FTS的儿童进行基因检测,即使没有异形特征,以确定潜在的单一性疾病.
科学领域:
- 遗传学 遗传学 是一个
- 儿科内分泌学 儿科内分泌学
- 人类生长障碍 人类生长障碍
背景情况:
- 家庭高身高 (FTS) 通常被认为是多基因遗传的良性.
- 然而,单源性疾病可以呈现FTS表型,可能掩盖病理状况.
研究的目的:
- 为了调查儿童FTS的遗传原因.
- 为了彻底描述FTS个体的表型.
主要方法:
- 招募了34名患有FTS的儿童 (身高>2SD) 和他们的父母.
- 进行了细胞遗传学分析和下一代测序786个与生长相关的基因.
- 进行标准和专业的内分泌和人体测量评估.
主要成果:
- 在34名儿童中有11名 (32.4%) 发现了遗传原因.
- 检测到染色体异常 (47,XXX,47,XYY),SHOX重复,以及包括NSD1,SUZ12,FGFR3,CHD8,GPC3和PPP2R5D在内的基因中的致病变体.
- 在24名儿童中观察到异形特征,而10名儿童没有综合征征.
结论:
- 在被诊断患有FTS的儿童中,可以识别单基因和细胞遗传病因.
- 对所有患有FTS的儿童来说,基因评估至关重要,不管是否存在异形特征.
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