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Mosaic trisomy 4: Long-term outcome on the first reported liveborn
April N Brady1, Kristin M May, Paul M Fernhoff
1Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA. nbrady@genetics.emory.edu
American Journal of Medical Genetics. Part A
|January 6, 2005
Summary
This study provides a long-term follow-up of the first liveborn with trisomy 4 mosaicism. The patient shows low-normal intellect and developmental delays, highlighting the importance of ongoing monitoring for rare chromosomal disorders.
Area of Science:
- Genetics
- Human Genetics
- Developmental Biology
Background:
- Trisomy 4 mosaicism is a rare chromosomal abnormality with limited long-term follow-up data.
- Previous reports of liveborns with trisomy 4 mosaicism are scarce, with some lacking postnatal confirmation.
Purpose of the Study:
- To provide long-term follow-up for the first described liveborn with trisomy 4 mosaicism.
- To assess the long-term developmental, intellectual, and physical outcomes in an individual with trisomy 4 mosaicism.
Main Methods:
- Longitudinal follow-up of a patient with confirmed trisomy 4 mosaicism.
- Assessment of intellectual function through standardized tests.
- Evaluation of physical development, including puberty and congenital anomalies.
Main Results:
- The patient, now 14 years old, is in special education but integrated into mainstream classes.
- She exhibits below-average scores on intellectual tests but has age-appropriate verbal and social skills.
- Physical findings include previously noted hand and ear abnormalities, with current concerns regarding pubertal development.
Conclusions:
- Long-term follow-up is crucial for understanding the full spectrum of outcomes in rare chromosomal disorders like trisomy 4 mosaicism.
- This case underscores the variability in developmental trajectories and the need for comprehensive, ongoing patient care.