3q29 microduplication syndrome: New evidence for the refinement of the critical region.

ABSTRACT:

Background

The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two genes was recently described in a patient with a 3q29 microduplication that was proposed as the minimal critical region of overlap of this syndrome.

Methods

Molecular karyotyping (array-CGH) was performed on DNA extracted from peripheral blood samples using Agilent-California USA Human Genome CGH Microarray 4 × 180 K. The proband and his younger brother were further tested with a next generation sequencing (NGS) panel including genes implicated in autism spectrum disorder and in neurodevelopmental disorders. Quantitat

SUBMITTER: Bauleo A 

PROVIDER: S-EPMC10094080 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature