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Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues
S Rudnik-Schöneborn1, R Schubert, F Majewski
1Institute for Human Genetics, University of Bonn, Germany. Rudnik@humgen.uni-bonn.de
Clinical Genetics
|August 1, 1997
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.