Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication

Sidrah A Badar; Amy M Breman; Celanie K Christensen; Brett H Graham; Meredith R Golomb

doi:10.1159/000521297

Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication

Cytogenet Genome Res. 2022;162(1-2):40-45. doi: 10.1159/000521297. Epub 2022 Feb 9.

Authors

Sidrah A Badar¹, Amy M Breman², Celanie K Christensen^{1

3}, Brett H Graham², Meredith R Golomb¹

Affiliations

¹ Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
² Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
³ Division of Developmental Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

PMID: 35139523
DOI: 10.1159/000521297

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.

Keywords: 16p11.2; 16p11.2 CNVs; 16p11.2 triplication; Biparental inheritance; Developmental delay.

Publication types

Case Reports

MeSH terms

Autistic Disorder* / genetics
Chromosome Duplication / genetics
Chromosomes, Human, Pair 16 / genetics
Databases, Genetic
Female
Humans
Male
Parents
Phenotype