Partial trisomy 6p from a de novo translocation (6; 18) with variable mosaicism in different tissues |
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| Authors: | Sabine Rudnik-Schö nebom,Regine Schubert,Frank Majewski,Fritz Haverkamp,Gesa Schwanitz |
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| Affiliation: | Institute for Human Genetics, University of Bonn;Institute for Human Genetics, University of Oüsseldorf;Pediatric Centre. University of Bonn, Germany |
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| Abstract: | Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18-month-old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes. |
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| Keywords: | mosaicism translocation trisomy 6p |
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