Decoding the Genetic Enigma: A Case Study on Congenital Anomalies with Developmental Delay and 9q Duplication Unveiled Via Comprehensive Whole Exome Sequencing and Cytogenetic Analysis. | Synapse
February 19, 2026Open Access
Decoding the Genetic Enigma: A Case Study on Congenital Anomalies with Developmental Delay and 9q Duplication Unveiled Via Comprehensive Whole Exome Sequencing and Cytogenetic Analysis.
Key Points
This research aims to evaluate the effectiveness of whole exome sequencing in diagnosing congenital anomalies with developmental delays caused by genetic duplications.
Conducted whole exome sequencing to analyze genetic material from patients.
Identified copy number variations (CNVs) and single nucleotide polymorphisms (SNPs/INDELs).
Utilized cytogenetic analysis to complement genetic findings.
Confirmed the effectiveness of WES in diagnosing patients with congenital anomalies and developmental delay.
Identified specific genetic alterations linked to 9q duplication.
Abstract
The present study confirms the effectiveness of utilizing WES-based analysis of CNVs and SNPs/INDELs as the primary diagnostic test for identifying patients with CAs/ID/DD.