Case Reports
doi: 10.1002/ajmg.1320010303.
Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation
- PMID: 677166
- DOI: 10.1002/ajmg.1320010303
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Case Reports
Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation
Am J Med Genet.
1978.
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.
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