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Direct duplication 2p14→2p23

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Summary

A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14→2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.

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References

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Yunis, E., González, J., Zuñiga, R. et al. Direct duplication 2p14→2p23. Hum Genet 48, 241–244 (1979). https://doi.org/10.1007/BF00286910

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  • DOI: https://doi.org/10.1007/BF00286910

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