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Trisomy 22 confirmed by fluorescent in situ hybridization
R F Stratton1, B R DuPont, V L Mattern
1Department of Pediatrics, University of Texas Health Science Center, San Antonio 78229.
American Journal of Medical Genetics
|April 1, 1993
Summary
Complete trisomy 22, a rare chromosomal condition, was identified in a newborn girl with multiple congenital anomalies. Further testing ruled out cryptic translocations involving chromosome 22.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Multiple congenital anomalies can arise from various genetic and environmental factors.
- Chromosomal abnormalities are a significant cause of congenital disorders.
- Trisomy, the presence of an extra chromosome, can lead to developmental issues.