Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.
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.
Rudnik-Schöneborn
S
S
Institute for Human Genetics, University of Bonn, Germany. Rudnik@humgen.uni-bonn.de
Schubert
R
R
Majewski
F
F
Haverkamp
F
F
Schwanitz
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes; D009006:Monosomy / Q000235:genetics; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D012867:Skin / Q000166:cytology; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*