Genes, Vol. 14, Pages 2194: A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

In this report, we provide an extensive molecular analysis of a 15-day-old newborn referred for syndromic features. Our analysis reveals an 8.5 Mb microdeletion at 2q37.1, which extends to the telomere, in conjunction with an 8.6 Mb interstitial microduplication at 2q34q36.1. Our findings underscore the prominence of 2q37 terminal deletions as commonly reported genomic anomalies. We compare our patient’s phenotype with previously reported cases in the literature to contribute to a more refined classification of 2q37 microdeletion syndrome and assess the potential impact of 2q34q36.1 microduplication. We also investigate multiple hypotheses to clarify the genetic mechanisms responsible for the observed genomic rearrangement.

Source: Genes - December 10, 2023 Category: Genetics & Stem Cells Authors: Francesco Nicola Riviello Alessia Daponte Emanuela Ponzi Romina Ficarella Paola Orsini Roberta Bucci Mario Ventura Francesca Antonacci Claudia Rita Catacchio Mattia Gentile Tags: Case Report Source Type: research