Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysis

Abstract excerpt

<title>Abstract</title> <p>The 22q11.2DupS is a rare autosomal dominant disorder characterized by a broad spectrum of clinical manifestations, including intellectual disability, dysmorphic features, and congenital anomalies. The phenotypic heterogeneity of 22q11.2DupS complicates both clinical diagnosis and management. Traditional screening methods, such as fetal ultrasound, often fail to detect these abnormaliti...

Topics

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• Abnormalities, Multiple
• Chromosome Deletion
• Chromosome Duplication
• Chromosomes, Human, Pair 22
• Comparative Genomic Hybridization
• DiGeorge Syndrome
• Genetic Counseling
• Phenotype

Identifiers and source

Literature Corpus work

9b50030f-16cf-500b-8d05-25c3c0366bc8

DOI

10.21203/rs.3.rs-7927418/v1