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Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation
American Journal of Medical Genetics
|January 1, 1978
Insights
Partial duplication of chromosome 2 long arm in a child is described. This genetic condition is associated with distinct facial features and minor digital anomalies in affected individuals.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Pediatric Case Studies
Background:
- Partial duplication of the long arm of chromosome 2 (2q duplication) is a rare chromosomal abnormality.
- Paternal balanced translocations can lead to unbalanced rearrangements in offspring, resulting in partial aneuploidies.
Observation:
- A case report of an 18-month-old boy with a 2q partial duplication, originating from a paternal balanced translocation (46,XY,ins(12,2)(q23;q33q37)), is presented.
- Comparison with five previously documented cases of 2q partial duplication.
Findings:
- Consistent phenotypic features observed in these children include a short nose with a broad, flat bridge, small anteverted nostrils, and a long upper lip.
- Additional common findings are low-set ears and minor digital anomalies.
Implications:
- This case contributes to the understanding of the 2q partial duplication syndrome.
- Identifying characteristic facial and digital features aids in the clinical diagnosis and genetic counseling for families with chromosome 2 abnormalities.
Abstract:
An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.