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Trisomy of the short arm of chromosome 4: the changing phenotype with age
A Kleczkowska1, J P Fryns, H van den Berghe
1Centre for Human Genetics, University of Leuven, U.Z. Gasthuisberg, Belgium.
Insights
This study details three patients with trisomy of the short arm of chromosome 4, highlighting age-related facial and growth changes. Key findings include developmental delays, behavioral issues, and motor deficits in individuals with this rare chromosomal disorder.
Area of Science:
- Genetics
- Human Biology
- Developmental Biology
Background:
- Trisomy of the short arm of chromosome 4 (4p+) is a rare chromosomal abnormality.
- Phenotypic manifestations of 4p+ can vary significantly among individuals.
Purpose of the Study:
- To describe the phenotypic characteristics of three patients with trisomy of the short arm of chromosome 4.
- To document the age-related changes in the physical and developmental features associated with 4p+.
Main Methods:
- Case study of three patients diagnosed with trisomy of the short arm of chromosome 4.
- Detailed clinical observation and documentation of physical, developmental, and behavioral phenotypes.
- Longitudinal assessment of phenotypic changes over time.
Main Results:
- Patients exhibited distinct facial changes with age, progressing from a round face to a more triangular or long facial structure.
- Pronounced postnatal growth retardation, short neck, broad chest with hyperkyphosis were observed.
- Moderate to severe intellectual disability, speech and motor development deficits, behavioral problems, hypertonia, gait abnormalities, joint contractures, and seizures were noted.
Conclusions:
- Trisomy of the short arm of chromosome 4 presents with a recognizable pattern of dysmorphic features and developmental challenges.
- Age-related phenotypic evolution is a significant aspect of this condition, impacting facial morphology and overall growth.
- Comprehensive management strategies are essential to address the multifaceted developmental and medical needs of individuals with 4p+.
Abstract:
In this paper the authors describe three patients with trisomy of the short arm of chromosome 4 with special attention to the striking phenotypic changes with age. When they get older the round face with chubby cheeks, deeply-set eyes and broad and flat nasal root with a bulbous nose tip becomes triangular or even long. Postnatal growth retardation is pronounced with short neck and broad, short chest with hyperkyphosis. The moderate to severe mental retardation is associated with almost absence of speech development, severe behavioural problems and poor fine motor development with persisting hypertonia, stiff, unstable gait, joint contractures and seizures.