18
Feb
16p11.2 deletion and duplication syndromes
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16p11.2 deletion and duplication syndromes are typically characterized by developmental delay, intellectual disability, behavioral and psychiatric concerns, weight issues, congenital anomalies, and epilepsy. The 16p11.2 region of the chromosome contains many low-copy repeats where atypical recombination events occur, and lead to copy number variations (CNVs). Vos et al. report... Read More
17
Feb
16p11.2 deletion or duplication diagnosis
16p11.2 deletion or duplication diagnosis Numerous copy number variants have been established to influence the likelihood of neurodevelopmental, mental health, and cognitive disabilities. The examples are 16p11.2 proximal deletions and duplications where individuals experience high varied phenotypes and are at higher risk for lifelong psychiatric problems. Previous literature has shown... Read More
