Trisomy 7p due to a mosaic normal/dir dup(7)(p13----p22). Syndrome delineation, critical segment assignment, and a comment on duplications.
A 4 4/12 year-old girl with a peculiar phenotype due to a 46,XX/46,XX, dir dup(7)(p1300----p2200) karyotype is described. The comparison with about ten similar cases permitted a better delineation of the 7p trisomy syndrome and the assignment of the band 7p21 as the critical one. Mechanisms for the origin of homogeneous and mosaic duplications, including one model based on a meiotic half chromatid duplication, are discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009030:Mosaicism; D014314:Trisomy