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Partial trisomy 16p due to maternal balanced translocation
Journal of Medical Genetics
|August 1, 1984
Insights
A male infant presented with multiple malformations due to partial trisomy of chromosome 16p. This genetic condition was linked to a balanced translocation in the mother, specifically t(14;16).
Area of Science:
- Genetics
- Human Molecular Genetics
- Reproductive Genetics
Background:
- Genetic abnormalities can lead to congenital malformations in newborns.
- Chromosomal translocations are a significant cause of recurrent miscarriages and genetic disorders in offspring.
Observation:
- A newborn male infant of East Asian descent exhibited multiple congenital anomalies.
- Karyotype analysis revealed partial trisomy of the 16p chromosome region in the infant.
Findings:
- The infant's genetic makeup indicated an extra segment of chromosome 16p, a condition known as partial trisomy 16p.
- The mother was identified as a carrier of a balanced translocation between chromosomes 14 and 16, specifically 46,XX,t(14;16)(q32;p12).
Implications:
- This case highlights the importance of genetic counseling for carriers of chromosomal translocations.
- Understanding such chromosomal rearrangements is crucial for predicting recurrence risks and providing appropriate prenatal diagnosis.
- Partial trisomy 16p can result in a spectrum of developmental abnormalities, emphasizing the need for further research into genotype-phenotype correlations.
Abstract:
A newborn oriental male with multiple malformations was found to have partial trisomy of 16p. The mother was found to be a translocation carrier: 46,XX,t(14;16) (q32;p12).