Publication: Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
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Frühmesser, A., Haberlandt, E., Judmaier, W., Schinzel, A., Utermann, B., Erdel, M., Fauth, C., Utermann, G., Zschocke, J., & Kotzot, D. (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9), 2239–2244. https://doi.org/10.1002/ajmg.a.35450
Abstract
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Abstract
Exact breakpoint determination by DNA-array has dramatically improved the analysis of genotype-phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21-year-old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletio
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Creators (Authors)
- Frühmesser, Anne
- Haberlandt, Edda
- Judmaier, Werner
- Schinzel, Albert
- Utermann, Barbara
- Erdel, Martin
- Fauth, Christine
- Utermann, Gerd
- Zschocke, Johannes
- Kotzot, Dieter
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Frühmesser, A., Haberlandt, E., Judmaier, W., Schinzel, A., Utermann, B., Erdel, M., Fauth, C., Utermann, G., Zschocke, J., & Kotzot, D. (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9), 2239–2244. https://doi.org/10.1002/ajmg.a.35450
