Figure 1.

General clinical characteristics of the patient. [A] Family pedigree. Proband with mosaic tetrasomy 9p [T9p] is shown [arrowhead]. [B] Abnormal mosaic female chromosome analysis of peripheral blood with one cell line containing a pseudo dicentric chromosome 9 [red arrow] in 13 of 20 cells examined. [C] Buccal swab p16 fluorescence in situ hybridization analysis showing three loci corresponding to the centromeric region of chromosome 9 [green] and four signals corresponding to its short arm [red] in 50% of cells examined [n = 167].