Assessing risk for Mendelian disorders in a Bronx population

ConclusionScreening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.

A panel of 75 variants displaying autosomal dominant, autosomal recessive, autosomal recessive/digenic recessive, X‐linked recessive, and X‐linked dominant inheritance patterns representing 39 Mendelian disorders were identified among Dominicans, Puerto Ricans and African Americans, representative of 85% of the population of the Bronx. Screening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.

Source: Molecular Genetics & Genomic Medicine - July 6, 2017 Category: Genetics & Stem Cells Authors: Guy diSibio, Kinnari Upadhyay, Philip Meyer, Carole Oddoux, Harry Ostrer Tags: Original Article Source Type: research