They have common epidemiologic associations that include an increasing incidence during the 20th century, (22) marked tendency to occur in first-world countries that are heavily industrialized and have a Western lifestyle, (23) occurrence in testes with what have been termed dysgenetic changes, (24-28) uniform occurrence of amplification of a segment of the short arm of chromosome 12 (often but not always in the form of an isochromosome
), (29,30) and, of course, typical development in young men.
Pallister-Killian mosaic syndrome (PKS), also termed Pallister-Killian syndrome, Pallister mosaic aneuploidy, tetrasomy 12p mosaicism, isochromosome
12p syndrome, or Teschler-Nicola syndrome is a rare dysmorphic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome
i(17)(q10), ASXL1 and CBL mutations.
After that, isochromosome
12p [i(12p)] formation causes invasive growth as a possible trigger event and turns into ITGCN, seminoma or nonseminoma TGCT histology (15).
We can hypothesize that TS girls with structural abnormalities of chromosome X (especially those with isochromosome
Xq) might have skewed body composition with increased skeletal muscle mass versus total fat mass and hence, increased BMI.
Monosomy 3 and isochromosome
8q in a uveal melanoma.
The limitations of these early cases were that further molecular cytogenetic studies were not done to confirm ROB or isochromosome
The most frequent chromosomal aberrations in Type II GCTs are amplification of chromosome 12p, usually through creation of isochromosome
12p, and amplification of the X chromosome.
reported an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome
Xq) in 16-year-old patient with Turner somatic features .
It is proposed that blast transformation of CML is triggered by molecular or genetic mutations, such as trisomy 8, trisomy 19, isochromosome
17, t(3;21), mutations in p53, RB gene, RAS pathway, or p16/ARF pathway mutations .
It originates from malignant germ cells and has 12p isochromosome
Correia Jr., "Isochromosome
14q in refractory anemia," Cancer Genetics and Cytogenetics, vol.