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Partial trisomy 12q: report of a case and review
Journal of Medical Genetics
|December 1, 1981
Insights
This study describes a male infant with pure partial trisomy 12q, a rare genetic condition caused by an unbalanced translocation. The findings contribute to understanding the clinical abnormalities associated with this specific chromosomal abnormality.
Area of Science:
- Human Genetics
- Cytogenetics
- Pediatric Medicine
Background:
- Partial trisomy 12q is a rare chromosomal abnormality.
- Understanding the phenotypic spectrum of trisomy 12q is crucial for genetic counseling and diagnosis.
Observation:
- A malformed male infant with pure partial trisomy 12q (12q24.1 to 12qter) is presented.
- This condition resulted from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1).
Findings:
- The proband's cytogenetic and clinical abnormalities were compared with four previously reported cases.
- Two of the reported cases also exhibited pure trisomy of the 12q24.1 to 12qter segment.
Implications:
- This case adds to the limited data on pure partial trisomy 12q.
- Further research can refine genotype-phenotype correlations for trisomy 12q abnormalities.
Abstract:
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.