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[Trisomy 9p. Report of two new cases]
M San Román Muñoz1, J L Herranz Fernández, A Tejerina Puente
1Sección de Neuropediatría, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, Santander, Spain.
Anales De Pediatria (Barcelona, Spain : 2003)
|October 1, 2004
Summary
Trisomy 9p, a duplication of chromosome 9
Area of Science:
- Genetics
- Clinical Medicine
- Pediatrics
Background:
- Trisomy 9p is a genetic disorder resulting from the duplication of the short arm of chromosome 9.
- It is a significant cause of developmental delay and congenital anomalies.
- This condition is considered the fourth most frequent autosomal trisomy.
Observation:
- Two new cases of trisomy 9p are presented.
- The study reviews previously reported cases in Spain.
- Clinical features, diagnostic, and therapeutic strategies are examined.
Findings:
- Trisomy 9p is characterized by psychomotor retardation.
- Affected individuals often exhibit malformations affecting multiple organs.
- Epilepsy is a potential clinical manifestation.
Implications:
- This review aids in understanding the prevalence and clinical spectrum of Trisomy 9p.
- It highlights the importance of early diagnosis and comprehensive management.
- The findings contribute to the clinical knowledge base for rare chromosomal disorders.