Related Experiment Video
Updated: Feb 28, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Phenotypic and genetic analysis of a boy with partial trisomy of 1q]
Dong Wu1, Hui Zhang, Hongdan Wang
1Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
Objective:
To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.
Methods:
The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay.
Results:
The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband.
Conclusion:
The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband.
Related Concept Videos
01:17Karyotyping
01:49Meiosis I
02:30Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:35Pedigree Analysis