Soliman Samar
Ain Shams University, EgyptPresentation Title:
Overview of chromosomal and non-chromosomal syndromes: Diagnostic and clinical perspectives
Abstract
Background: Syndromes are pattern of multiple anomalies thought to be genetically related
.Genetic syndromes play a critical role in pediatric and adult medicine. They
are categorized into chromosomal and non-chromosomal types, as well as there is
multiple etiologies, system calcifications.
Objective: To provide a comprehensive overview of common chromosomal and non-chromosomal
syndromes, focusing on their genetic basis and
diagnostic approach,
Methods: The lecture highlight diagnostic
challenges of multiple syndromes
Results: Chromosomal syndromes such as Down syndrome and Turner syndrome often present
with multi-system involvement and require multidisciplinary care.
Non-chromosomal syndromes such as Marfan and Noonan syndrome may mimic genetic
disorders but involve single-gene mutations. Early diagnosis significantly
improves patient outcomes.
Conclusion: Understanding the syndromes and early
detection is important in the effective management. Continuous medical
education in this field supports better care and informed genetic counseling.
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