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Clinical variability of tetrasomy 12p
G B Schaefer1, A Jochar, R Muneer
1University of Nebraska Medical Center, Meyer Rehabilitation Institute, Omaha 68198-5430, USA. gbschaef@unmc.edu
Clinical Genetics
|February 1, 1997
Summary
Tetrasomy 12p, or isochromosome 12p, presents a broad spectrum of symptoms, not always matching classic Pallister-Killian syndrome. Genetic and phenotypic variability is crucial for accurate prenatal diagnosis and counseling.
Area of Science:
- Genetics
- Human Biology
- Medical Science
Background:
- Tetrasomy 12p, specifically isochromosome 12p [i(12p)], is a chromosomal aneuploidy.
- Pallister-Killian syndrome is a known condition associated with i(12p).
Observation:
- This study describes five patients with tetrasomy 12p, including one previously reported case.
- The patients displayed a wide range of phenotypic features.
- Observed phenotypes varied from classic Pallister-Killian syndrome to mild learning disabilities with pigmentary skin changes.
Findings:
- Tetrasomy 12p and Pallister-Killian syndrome are not synonymous, despite frequent co-occurrence.
- The phenotypic spectrum of i(12p) is broader than previously characterized.
- Genotype-phenotype correlations in tetrasomy 12p are highly variable.
Implications:
- Accurate genetic counseling for prenatal cases of i(12p) is essential.
- Healthcare providers must discuss the full spectrum of potential phenotypic outcomes with expectant parents.
- Understanding the variability of tetrasomy 12p is critical for diagnosis and management.