Trisomy 22 in a 20-year-old female

Area of Science:

• Genetics
• Human Biology
• Clinical Medicine

Background:

• Trisomy 22 is a rare chromosomal abnormality.
• Understanding its phenotypic spectrum is crucial for diagnosis and management.

Observation:

• A case study of a 20-year-old ambulatory female with confirmed Trisomy 22.
• Detailed description of growth retardation, mental retardation, and dysmorphic features.
• Inclusion of previously unreported observations: sexual immaturity and gait abnormalities.

Findings:

• The patient presented with a constellation of symptoms consistent with Trisomy 22.
• Comparison of observed features with existing literature and surveys on Trisomy 22.
• Identification of novel clinical manifestations associated with this syndrome.

Implications:

• Highlights the variability in Trisomy 22 presentation.
• Emphasizes the need for comprehensive evaluation in individuals with Trisomy 22.
• Contributes to a deeper understanding of the genetic and clinical landscape of Trisomy 22.