Cytogenetic and Genome Research

Novel Insights from Clinical Practice

Badar S.A.a· Breman A.M.b· Christensen C.K.a,c· Graham B.H.b· Golomb M.R.a

Author affiliations

aDivision of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA
bDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
cDivision of Developmental Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA

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Article / Publication Details

First-Page Preview

Received: August 09, 2021
Accepted: December 01, 2021
Published online: February 09, 2022

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.

© 2022 S. Karger AG, Basel

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First-Page Preview

Received: August 09, 2021
Accepted: December 01, 2021
Published online: February 09, 2022

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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