Related Experiment Videos
Cytogenetic and molecular analysis in trisomy 12p
T L Allen1, A R Brothman, J C Carey
1Department of Pediatrics, University of Utah Medical Center, Salt Lake City, USA.
American Journal of Medical Genetics
|May 3, 1996
Summary
This study details a male patient with de novo pure trisomy 12p syndrome, confirmed via molecular and FISH analyses. The findings contribute to understanding the relationship between cytogenetic makeup and phenotype in trisomy 12p.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Cytogenetics
Background:
- Trisomy 12p syndrome is a rare chromosomal disorder.
- Understanding the genotype-phenotype correlation is crucial for diagnosis and management.
Purpose of the Study:
- To characterize a case of de novo pure trisomy 12p syndrome.
- To compare clinical and cytogenetic findings with existing literature.
- To propose a classification system for trisomy 12p.
Main Methods:
- G-banding karyotyping
- Molecular analysis with chromosome 12p markers
- Fluorescence in situ hybridization (FISH) with whole chromosome 12 paint
Main Results:
- A male patient presented with a 46,XY, 22p+ karyotype, indicating trisomy 12p.
- The extra chromosomal material was confirmed to be of paternal origin.
- Clinical and cytogenetic data were compared to previously reported cases.
Conclusions:
- The study confirms trisomy 12p in the patient through advanced molecular and cytogenetic techniques.
- A proposed classification system aims to better correlate cytogenetic findings with the phenotype of trisomy 12p.
- This case adds to the understanding of de novo trisomy 12p syndrome.