J Pediatr Genet 2019; 08(04): 218-221
DOI: 10.1055/s-0039-1685500
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

1   Department of Pediatrics, Division of Neonatology, New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
2   Department of Neonatology, Columbia University Irving Medical Center, New York, New York, United States
,
Marioxy Contreras
1   Department of Pediatrics, Division of Neonatology, New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
,
Jessica Giordano
1   Department of Pediatrics, Division of Neonatology, New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
2   Department of Neonatology, Columbia University Irving Medical Center, New York, New York, United States
,
Elvira Parravicini
1   Department of Pediatrics, Division of Neonatology, New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
2   Department of Neonatology, Columbia University Irving Medical Center, New York, New York, United States
› Author Affiliations
Funding The authors have no financial relationships relevant to this article to disclose.
Further Information

Publication History

25 January 2019

07 March 2019

Publication Date:
20 April 2019 (online)

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.

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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