The presence of isochromosome
12p (made up of two p arms) causes the disorder.
UPD associated with an isochromosome
was reported in cases with i(1p) plus i(1q), i(2p) plus i(2q), i(4p) plus i(4q), i(7p) plus i(7q), psudic (8)(p23.3), i(9p) plus i(9q), i(13q), i(14q), i(15q), i(21q), and i(22q) (35, 36).
Luleci, "Turner Syndrome with Isochromosome
Xq and Familial Reciprocal Translocation t(4;16)(p15.2; p13.1)," Balkan Journal of Medical Genetics, vol.
The most common structural cytogenetic abnormality in seminoma is presence of isochromosome
Monosomy X (45,X) is the most common overall karyotype, encountered in approximately 45% of diagnosed cases, whereas the most common X chromosome structural defect is the isochromosome
46,X,i(X)(q10) that comprises approximately 15-18% of total cases of TS .
Berman, "An isochromosome
confers drug resistance in vivo by amplification of two genes, ERG11 and TAC1," Molecular Microbiology, vol.
(3) Extragonadal GCTs share the gain of isochromosome
12p with gonadal GCTs.
However strong evidence that this supernumerary is an isochromosome
was given by some additional mitotic and meiotic studies, which also indicated that its heterochromatic nature is related with the amplification and dispersion of highly repetitive sequences (Mestriner et al., 2000; Moreira-Filho et al., 2004; Vicari et al., 2011).
Cytogenetic analysis revealed complex abnormal findings with isochromosome
of 5p, rearrangement of chromosome 6, and loss of chromosomes 18 and 20 in all cells examined.
has cells with 45,X and cells with 46,XX), karyotypes with an isochromosome
of X--for example i(Xq) or i(Xp)--or karyotypes with an entire or part of an Y chromosome.
3q+ (i3)(q10) has also been described in a varying proportion of the B cell population [3, 18].