The basic causes are unknown, however in approximately 10% of patients a maternal uniparental disomy (UPD) of chromosome 7 or chromosomal aberrations can be detected. Four growth retarded children, ...

Read more about PWS comorbidities A subgroup of 13 patients with a genetic deletion showed a statistically significant increase in obstructive sleep apnea, whereas a reduced risk of high heart rate ...

Uniparental Disomy) 导致的常见染色体疾病，同时通过对既往数万例CNV-seq检测样本及数据回溯，开发了特有的宏基因组算法，可对具有超声异常表现的 ...

Angelman Syndrome (AS) is a rare genetic disorder that primarily affects neurological development, characterized by developmental delays, intellectual disability, speech impairment, and movement ...

[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 ...