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Phenotypic variation in the del(12p) syndrome.
American Journal of Medical Genetics
|December 1, 1985
Summary
The del(12p) syndrome, previously linked to intellectual disability and specific facial features, presents with significant variability. This case highlights new potential symptoms and emphasizes the role of deletion size in phenotypic expression.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Previous reports have suggested a distinct del(12p) syndrome.
- Associated phenotypes included intellectual disability, microcephaly, and micrognathia.
Observation:
- A patient with del(12p) presented with normocephaly and was large for gestational age.
- Sclerocornea, a novel finding, was likely present in this patient.
Findings:
- Phenotypic variation in del(12p) syndrome is significant.
- The size of the deleted segment and gene content on the homologous 12p segment likely influence the phenotype.
Implications:
- This case expands the known phenotypic spectrum of del(12p) syndrome.
- Understanding the genetic basis of del(12p) is crucial for accurate diagnosis and prognosis.