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Genetic testing platforms such as chromosomal microarray analysis and next generation sequencing often detect genetic variants of incomplete penetrance and variable expressivity. The difficulty to determine the exact genotype-phenotype correlations… Click to show full abstract
Genetic testing platforms such as chromosomal microarray analysis and next generation sequencing often detect genetic variants of incomplete penetrance and variable expressivity. The difficulty to determine the exact genotype-phenotype correlations and to predict the clinical outcome is enhanced when these variants are detected in the prenatal setting. In this article, we suggest 10 important points that may assist the clinician in providing genetic counseling in such cases.
Journal Title: Acta Obstetricia et Gynecologica Scandinavica
Year Published: 2020
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