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A rare genetic condition, partial trisomy 12q, was identified in a newborn due to a maternal translocation. This finding adds to the limited cases of chromosome 12 aberrations, highlighting familial inheritance patterns.
Area of Science:
- Human Genetics
- Cytogenetics
- Medical Genetics
Background:
- Balanced translocations can lead to unbalanced chromosomal abnormalities in offspring.
- Aberrations involving chromosome 12 are infrequently reported in genetic literature.
- Familial translocations are a known cause of recurrent genetic disorders.
Observation:
- A male newborn presented with multiple congenital abnormalities.
- Genetic analysis revealed a partial trisomy 12q243 to qter.
- The abnormality resulted from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243).
Findings:
- The patient's condition is consistent with trisomy for the distal region of chromosome 12q.
- This represents the third reported case of partial trisomy 12q, all linked to familial translocations.
- The maternal grandmother was identified as a carrier of the same 9;12 translocation.
Implications:
- This case expands the understanding of partial trisomy 12q phenotypes.
- It underscores the importance of genetic counseling for carriers of balanced translocations.
- Further research into chromosome 12 aberrations may reveal more about their impact on development.
Abstract:
A partial trisomy 12q243 leads to qter resulting from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243) was detected in a male newborn with multiple congenital abnormalities. The maternal grandmother was also a carrier of the 9;12 translocation. Our patient exhibited a number of clinica features similar to two others reported, who were also trisomic for the distal part of 12q. Aberrations of chromosome 12 are very rare. There have been only two reports of partial trisomy 12q, both the result of a familial translocation. We describe a third unbalanced case.