Human pathology

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isochromosomes

Isochromosome formation results when one arm of a chromosome is lost and the remaining arm is duplicated, resulting in a chromosome consisting of two short arms only or of two long arms.

An isochromosome has morphologically identical genetic information in both arms.

The most common isochromosome present in live births involves the long arm of the X and is designated i(X)(q10). The Xq isochromosome is associated with monosomy for genes on the short arm of X and with trisomy for genes on the long arm of X.

Isochromosomes are observed in 10% of cancer cytogenetic examinations

i(17q)i(8q)i(1q)i(12p)i(6p)i(7q)i(9q)i(5p)i(21q)

By tumors

acute myeloid leukemiai(11q)i(17q)i(21q)
chronic myeloid leukemiai(9q)i(17q)i(22q)
chronic myeloproliferative disordersi(17q)
myelodysplastic syndromesi(X)(q13)i(17q)i(21q)
acute lymphoblastic leukemiai(7q)i(9q)i(17q)
chronic lymphoproliferative disordersi(1q)i(7q)i(8q
Hodgkin diseasei(1q)i(6p)i(9p)i(17q)i(21q)
non-Hodgkin lymphomai(1q)i(6p)i(17q)
adenocarcinomai(1q)i(8q)i(17q)
transitional cell carcinomai(5p)i(8q)i(11q)
Wilms tumori(1q)i(7q)i(17q)
germ cell neoplasmsi(1q)i(12p)i(17q)
sarcomai(1p)i(1q)i(6p)i(17q)
mesotheliomai(5p)i(6p)i(7p)i(21q)
malignant neurogenic neoplasmsi(1q)i(6p)i(17q)
retinoblastomai(1q)i(6p)i(17q)
malignant melanomaai(1q)i(6p)i(8q)

References

- Mertens F, Johansson B, Mitelman F. Isochromosomes in neoplasia. Genes Chromosomes Cancer. 1994 Aug;10(4):221-30. PMID: 7522535