Hear from our subject matter experts about how genetic counselors can help you navigate the complex journey through rare disease, creating practice efficiencies and optimizing patient care.
Prenatal cell free DNA (cfDNA) screening is a widely used method to screen for fetal aneuploidies in pregnancy. While designed to identify fetal aneuploidies, deletions and duplications present in the pregnant patient have also been identified through cfDNA.
Centric fission occurs when a centromere separates, resulting in two new stable chromosomes. Examples of centric fission have been detailed in the literature across many species; however, cases reported in humans are limited. Here we document a multigenerational inheritance of 16p and 16q telocentric chromosomes derived from a centric fission
