本研究聚焦于22q11.2缺失综合征儿童脊柱侧弯的发病机制，通过长期随访数据，探究其发病前的预测因素，为早期干预提供依据，具有重要的临床意义。 22q11.2缺失综合征是一种常见的染色体微缺失疾病，其患者发生脊柱侧弯的风险显著高于普通人群。然而 ...

然而，当一些基因出现问题时，这座 “城市” 的信息交流网络就可能出现故障。染色体 22q11.2 缺失就是这样一个 “麻烦制造者”，它显著增加了自闭症、精神分裂症等神经精神疾病的患病风险。 目前，尽管大量研究表明 22q11.2 缺失综合征（22q11DS）患者存在大 ...

We note that these findings may be less applicable to those diagnosed with 22q11.2 deletion syndrome before the last decade, as it has become common over that period of time to perform ...

A Dublin mum is hosting a fundraiser in memory of her baby daughter, who died of a heart condition just two weeks before her ...

[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique ...

To get an early view of the disease process, the Stanford Medicine team studied young people aged 6 to 39 with 22q11.2 deletion syndrome, a genetic condition with a 30% risk for psychosis ...

A new initiative to help students balancing college life with looking after a loved one has been launched at University of ...