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New chromosomal dysmorphic syndromes. 4. Trisomy 12p
European Journal of Pediatrics
|July 1, 1981
Summary
Maternal translocation can cause trisomy 12p, a syndrome with severe developmental delays and distinct craniofacial anomalies. Genetic analysis helps define risks associated with this chromosomal imbalance.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Balanced maternal translocations can result in offspring with chromosomal abnormalities.
- Trisomy 12p is a rare condition with significant clinical implications.
Purpose of the Study:
- To describe a phenotypically defined syndrome caused by trisomy 12p.
- To identify characteristic craniofacial anomalies associated with trisomy 12p.
- To analyze cytogenetic data and provide risk figures for inherited translocations.
Main Methods:
- Case report analysis of two families with balanced maternal translocations leading to trisomy 12p.
- Review of 21 additional case reports to define the syndrome's phenotype.
- Cytogenetic classification of 21 inherited translocations and segregation analysis of pedigree data.
Main Results:
- Trisomy 12p is a well-defined syndrome characterized by severe developmental retardation and specific craniofacial anomalies.
- Gene sequences responsible for features are located distally to band 12p12.
- Severity of organ malformations and survival probability correlate with the degree of chromosomal imbalance.
Conclusions:
- The syndrome associated with trisomy 12p can be recognized by its distinct craniofacial features.
- The extent of chromosomal imbalance influences the severity of clinical manifestations and prognosis.
- Calculated risk figures are provided for different types of translocations based on cytogenetic and segregation analyses.