PMC5036387_01
PMC5036387_02
A. Fluorescence in situ hybridization analysis indicating hybridization of two copies of the DYZ3 Y chromosome centromeric probe (shown in aqua) in twin A, confirming the dicentric structure of the Y. The above image illustrates the 48, XX, +idic(Yq) x2 mosaic cell line, originally identified on karyotype for twin A. B. SNP array data for twin A indicating a gain of genomic material from Yq11.222-q12 with absence of material from Yp and Yq11.1-11.221.
nihms-817689-f0001.jpg
PMC5036387_02_nihms-817689-f0001.jpg
F1
Fluorescence in situ hybridization (FISH) was negative for SRY located at Yp11.3 and positive for two copies of the centromeric probe DYZ3, confirming the dicentric structure (Figure 1A). A at the University of Michigan Medical Genetics Laboratory with a focus on further delineating Y chromosome breakpoints to determine gonadoblastoma risk. A 39.3 Mb gain of material from region Yq11.222-q12 (20105854-59357887)(GRCh37/hg19) was identified, with no detection of genomic material from Yp or the pericentromeric region of Yq extending to Yq11.221, suggesting a final isodicentric Yq structure with incomplete duplication of the q arm (Figure 1B).