2002-04-22
Duplication of chromosome region (16)(p11.2→p12.1) in a mother and daughter with mild mental retardation
Publication
Publication
American Journal of Medical Genetics , Volume 109 - Issue 2 p. 149- 153
We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band-specific probes, resulting in a 46,XX,dir dup(16)(pter→p11.2::p12.1→qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature.
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| doi.org/10.1002/ajmg.10287, hdl.handle.net/1765/73811 | |
| American Journal of Medical Genetics | |
| Organisation | Department of Psychiatry |
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Engelen, J., de Die-Smulders, C., Dirckx, M., Verhoeven, W., Tuinier, S., Curfs, L. M. G., & Hamers, A. J. H. (2002). Duplication of chromosome region (16)(p11.2→p12.1) in a mother and daughter with mild mental retardation. American Journal of Medical Genetics, 109(2), 149–153. doi:10.1002/ajmg.10287 |
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