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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Isochromosomes

  • Because p53 abnormalities correlate with progressive and refractory disease in cancer and isochromosome 17q has been described in SLVL, a low-grade lymphoma that behaves aggressively in a minority of patients, this study investigated p53 changes by molecular and immunophenotypic methods in samples from 59 patients [1].
  • A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis [2].
  • We confirmed that an isochromosome for 12p, i(12p), is the only consistent structural chromosomal abnormality in TGCT, present in about 70% of our cases [3].
  • This is the first report of an isochromosome X patient to develop endometrial cancer without receiving estrogen replacement [4].
  • The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition [5].

High impact information on Isochromosomes

  • Isochromosome 9q in an infant exposed to ethanol prenatally [6].
  • These cells frequently become resistant to PALA through a mechanism that increases the aspartate transcarbamylase activity with no increase in CAD copy number, or they obtain one extra copy of CAD by forming an isochromosome 2p or by retaining an extra copy of chromosome 2 [7].
  • To test the centromere misdivision model of isochromosome formation, we have defined the breakpoints of cytogenetically monocentric and dicentric Xq isochromosomes (i(Xq)) from Turner syndrome probands, using FISH with cosmids and YACs derived from a contig spanning proximal Xp [8].
  • Isochromosomes for the long arm of chromosome 5 of the wheat B genome (5BL) were microdissected from first meiotic metaphase spreads of a monoisosomic 5BL line of the common wheat Triticum aestivum cv. Chinese Spring. The dissected isochromosomes were amplified by degenerate oligonucleotide-primed PCR in a single tube reaction [9].
  • A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation [10].

Biological context of Isochromosomes


Anatomical context of Isochromosomes


Associations of Isochromosomes with chemical compounds


Gene context of Isochromosomes


Analytical, diagnostic and therapeutic context of Isochromosomes


  1. p53 abnormalities in splenic lymphoma with villous lymphocytes. Gruszka-Westwood, A.M., Hamoudi, R.A., Matutes, E., Tuset, E., Catovsky, D. Blood (2001) [Pubmed]
  2. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter). Daniel, A., Saville, T., Southall, D.B. J. Med. Genet. (1979) [Pubmed]
  3. No recurrent structural abnormalities apart from i(12p) in primary germ cell tumors of the adult testis. van Echten, J., Oosterhuis, J.W., Looijenga, L.H., van de Pol, M., Wiersema, J., te Meerman, G.J., Schaffordt Koops, H., Sleijfer, D.T., de Jong, B. Genes Chromosomes Cancer (1995) [Pubmed]
  4. Endometrial adenocarcinoma without prior hormone replacement in a diabetic patient with gonadal dysgenesis. Kratzert-Adams, K., Adelson, M.D., Badawy, S.Z., Stein, C.K., Gordon, L. Obstetrics and gynecology. (1992) [Pubmed]
  5. Pallister-Killian and Fryns syndromes: nosology. McPherson, E.W., Ketterer, D.M., Salsburey, D.J. Am. J. Med. Genet. (1993) [Pubmed]
  6. Isochromosome 9q in an infant exposed to ethanol prenatally. Gardner, L.I., Mitter, N., Coplan, J., Kalinowski, D.P., Sanders, K.J. N. Engl. J. Med. (1985) [Pubmed]
  7. Multiple mechanisms of N-phosphonacetyl-L-aspartate resistance in human cell lines: carbamyl-P synthetase/aspartate transcarbamylase/dihydro-orotase gene amplification is frequent only when chromosome 2 is rearranged. Smith, K.A., Chernova, O.B., Groves, R.P., Stark, M.B., Martínez, J.L., Davidson, J.N., Trent, J.M., Patterson, T.E., Agarwal, A., Duncan, P., Agarwal, M.L., Stark, G.R. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  8. Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Wolff, D.J., Miller, A.P., Van Dyke, D.L., Schwartz, S., Willard, H.F. Am. J. Hum. Genet. (1996) [Pubmed]
  9. Chromosome painting in plants: in situ hybridization with a DNA probe from a specific microdissected chromosome arm of common wheat. Vega, M., Abbo, S., Feldman, M., Levy, A.A. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  10. A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. Lorda-Sanchez, I., Binkert, F., Maechler, M., Schinzel, A. Am. J. Hum. Genet. (1991) [Pubmed]
  11. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. Davis, R.M. J. Med. Genet. (1981) [Pubmed]
  12. The development and meiotic behavior of asymmetrical isochromosomes in wheat. Lukaszewski, A.J. Genetics (1997) [Pubmed]
  13. Cytogenetic and molecular analysis of a Yq isochromosome. Guttenbach, M., Müller, U., Schmid, M. Hum. Genet. (1990) [Pubmed]
  14. Cytogenetic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y;13) translocation showing differential centromeric activity. Ing, P.S., Smith, S.D. Clin. Genet. (1983) [Pubmed]
  15. Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p] and a marked LDH-B gene dosage effect. Steinbach, P., Rehder, H. Clin. Genet. (1987) [Pubmed]
  16. Hypomethylated X chromosome gain and rare isochromosome 12p in diverse intracranial germ cell tumors. Okada, Y., Nishikawa, R., Matsutani, M., Louis, D.N. J. Neuropathol. Exp. Neurol. (2002) [Pubmed]
  17. Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome. Heras, J.G., Coco, R. Mutat. Res. (1986) [Pubmed]
  18. Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish. Wilson, R.D., Harrison, K., Clarke, L.A., Yong, S.L. Prenat. Diagn. (1994) [Pubmed]
  19. A case of Turner syndrome with the karyotype of 45,X/46,X,i(Xq) associated with acute monocytic leukemia. Otokida, K., Ohira, K., Ishikawa, M., Arakawa, N., Yoshida, A., Kamimura, A., Kou, E., Kato, M. Tohoku J. Exp. Med. (1990) [Pubmed]
  20. Isochromosome for derivative 17q in acute promyelocytic leukemia: evidence for two copies of PML-RARA and favorable response to all-trans-retinoic acid therapy. Park, J.P., Fairweather, R.B., Mohandas, T.K. Genes Chromosomes Cancer (1997) [Pubmed]
  21. Post-zygotic origin of isochromosome 12p. de Ravel, T.J., Keymolen, K., van Assche, E., Wittevronghel, I., Moerman, P., Salden, I., Matthijs, G., Fryns, J.P., Vermeesch, J.R. Prenat. Diagn. (2004) [Pubmed]
  22. Chromosome 21 rearrangement in acute biphenotypic leukemia. Theodossiou, C., Scalise, A., Silverman, L., Najfeld, V. Cancer Genet. Cytogenet. (1992) [Pubmed]
  23. A malignant triton tumor with an unbalanced translocation (1;13)(q10;q10) and an isochromosome (8)(q10) as the sole karyotypic abnormalities. Hennig, Y., Löschke, S., Katenkamp, D., Bartnitzke, S., Bullerdiek, J. Cancer Genet. Cytogenet. (2000) [Pubmed]
  24. APC mutations in sporadic medulloblastomas. Huang, H., Mahler-Araujo, B.M., Sankila, A., Chimelli, L., Yonekawa, Y., Kleihues, P., Ohgaki, H. Am. J. Pathol. (2000) [Pubmed]
  25. Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT). Christodoulou, J., Schoch, C., Schnittger, S., Haferlach, T. Ann. Hematol. (2004) [Pubmed]
  26. Combined genome-wide allelotyping and copy number analysis identify frequent genetic losses without copy number reduction in medulloblastoma. Langdon, J.A., Lamont, J.M., Scott, D.K., Dyer, S., Prebble, E., Bown, N., Grundy, R.G., Ellison, D.W., Clifford, S.C. Genes Chromosomes Cancer (2006) [Pubmed]
  27. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Mellink, C.H., Alders, M., van der Lelie, H., Hennekam, R.H., Kuijpers, T.W. Cancer Genet. Cytogenet. (2004) [Pubmed]
  28. MYCC and MYCN oncogene amplification in medulloblastoma. A fluorescence in situ hybridization study on paraffin sections from the Children's Oncology Group. Aldosari, N., Bigner, S.H., Burger, P.C., Becker, L., Kepner, J.L., Friedman, H.S., McLendon, R.E. Arch. Pathol. Lab. Med. (2002) [Pubmed]
  29. Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia. Donnenfeld, A.E., Campbell, T.J., Byers, J., Librizzi, R.J., Weiner, S. Am. J. Obstet. Gynecol. (1993) [Pubmed]
  30. Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. Chen, C.P., Chern, S.R., Lee, C.C., Chen, L.F., Chuang, C.Y., Chen, M.H. Prenat. Diagn. (1998) [Pubmed]
  31. Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses. Slim, R., Soulié, J., Hotmar, J., Lecolier, B., Bercau, G., Bernheim, A. Prenat. Diagn. (1994) [Pubmed]
  32. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Vermeesch, J.R., Melotte, C., Salden, I., Riegel, M., Trifnov, V., Polityko, A., Rumyantseva, N., Naumchik, I., Starke, H., Matthijs, G., Schinzel, A., Fryns, J.P., Liehr, T. European journal of medical genetics. (2005) [Pubmed]
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