Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Abstract

The first known documented case of monochorionic–diamniotic twins with Coffin–Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques.

Keywords

whole-exome sequencing - genetics - neonatology - early diagnosis - precision medicine

Note

Whole-exome sequencing was completed through the IRB approved study at Columbia University Irving Medical Center. The contents of this manuscript have not been previously presented as an abstract or poster.

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