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, ...

Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal ...

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 ...

SNP arrays have the added advantage of the ability to identify polyploidy and long stretches of homozygosity that may represent consanguinity or uniparental disomy, associated with a risk for ...

产前超音波检查，如果发现有胎儿子宫内生长迟滞（intrauterine growth restriction)(IUGR)， 则要考虑胎儿是否有镶嵌型三染色体16（mosaic trisomy 16，或是由mosaic trisomy 16 衍生而成的母源单一亲源二染色体（maternal uniparental disomy)，即matUPD(16)，另外也要考虑胎盘是否有局限 ...

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 ...

Chromosomal microarray analysis (CMA), FISH, and karyotyping can detect copy number variations, chromosomal abnormalities, and can confirm uniparental isodisomy (46). CMA is the most common microarray ...

Mather Memorial Building 126A Schubert Center, 11635 Euclid Ave, Ste 120 ...

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 ...