Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

Background Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare.

Rapid genome sequencing identifies a greater number of unique diagnoses in infants with congenital heart disease compared with chromosomal microarray analyses. Rapid genome sequencing (rGS) identifies ...

摘要：遗传病的患病率估算受抽样偏倚及不同估算方法等多种因素干扰而较为复杂。明确其真实患病率对于了解疾病负担、药物经济学建模及检测与诊疗资源分配至关重要。Phelan-McDermid综合征（Phelan-McDermid syndrome，PMS）是一种遗传性 摘要：遗传病的患病率估算受抽样偏倚及不同估算方法等多种因素干扰而较为复杂。明确其真实患病率对于了解疾病负担、药物经济学建模及检测与诊疗资源 ...

Further chromosomal microarray analysis (CMA) was conducted, revealing a pathogenic copy number variation (CNV)—specifically, a deletion at 1q25.3–q32.1 (Chr1:180300001-207100000,hg38) with a ...

There was a time when pregnancy tests did not merely announce impending parenthood. They opened the door to nine months of low-grade anxiety dressed up as “monitoring”. Particularly if you happened to ...

Aging-related cardiovascular diseases are a rapidly increasing problem worldwide. Cardiac aging demonstrates progressive decline of diastolic dysfunction of ventricle and increase in ventricular and ...