Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

In this study, the risks for the parents, fetuses and other siblings having twoSMN1 copies to be “2 + 0” carriers were estimated based on Chinese meta-analysis data and turned out to be rather striking. Our findings would help to optimize genetic counseling regarding spinal muscular atrophy.
Source: Journal of Genetic Counseling - Category: Genetics & Stem Cells Source Type: research