Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro ‐Caribbean family

ConclusionWe describe a collaboration between a pediatrics team from a resource ‐limited nation and USA‐based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. Here, we present a family of Afro‐Caribbean ancestry with CdLS presenting with phenotypic variability, including unusual lower limb abnormalitie s. The observation of this novel family adds to our knowledge of the phenotypic and molecular aspects of CdLS.

Source: Molecular Genetics & Genomic Medicine - June 7, 2020 Category: Genetics & Stem Cells Authors: Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering Tags: CLINICAL REPORT Source Type: research