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 ...

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 ...

[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 ...

The study, published Dec. 5 in the journal Nature Communications, focuses on 22q11.2 deletion syndrome, a chromosomal disorder in which one copy of chromosome 22 is missing a small chunk.