Related Experiment Video
Updated: Jun 13, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth
1Center for Human Genetics, University of Leuven, Belgium. prosper.lukusa@uzleuven.be
Abstract:
We describe a 3-year-old girl with pure 17q25.3 duplication and a complex clinical presentation comprising psychomotor/mental retardation, growth retardation and most dysmorphic features of partial duplication 17q syndrome with, additionally, a striking distal arthrogryposis. The duplication size was maximum 2.46 MB, being thus, to the best of our knowledge, the smallest 17q25.3 duplicated portion ever reported. This defect could only be detected by microarray assays, stressing once again the pertinence of this tool in detecting cryptic rearrangements. From the findings in the present patient and in the previously reported cases with duplication within the 17q21-7q25 region, it appears that the clinical features collected from the group of patients without a complementary monosomy illustrate better the trisomy 17q phenotype, and that most dysmorphic features of the 17q duplication syndrome might largely be related to the very terminal segment extending from 17q25.3 to 17qter.
More Related Videos
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Karyotyping
Karyotyping
Chromosome Duplication
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...
Meiosis I
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Centrosome Duplication
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...