Summary: Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.

Top Publications

  1. Kovaleva N, Shaffer L. Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes. Am J Med Genet A. 2003;121A:180-7 pubmed
    ..homologous acrocentric rearrangements (Robertsonian translocations (ROBs) between homologous chromosomes and isochromosomes) are at very high risk of having multiple spontaneous abortions and chromosomally abnormal offspring...
  2. Iriarte P, Céspedes W, Santos M. Quantitative-genetic analysis of wing form and bilateral asymmetry in isochromosomal lines of Drosophila subobscura using Procrustes methods. J Genet. 2003;82:95-113 pubmed
    ..In addition, only a subset of the standing genetic variation was represented in the experiments...
  3. Pasantes J, Wimmer R, Knebel S, Munch C, Kelbova C, Junge A, et al. 47,X,idic(Y),inv dup(Y): a non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation. Cytogenet Genome Res. 2012;136:157-62 pubmed publisher situ hybridization (FISH) with a Y painting probe tagged both marker chromosomes which were supposed to be isochromosomes of the short and the long arm, respectively...
  4. Carlson W. Unstable inheritance of maize B-type chromosomes that lack centric heterochromatin. Genome. 2006;49:420-31 pubmed
    ..A mixture of conventional B non-disjunction and centric misdivision produced the recessive phenotypes. The significance of conventional non-disjunction in the absence of centric heterochromatin is discussed. ..
  5. Caloone J, Sanlaville D, Fichez A, Abel C, Huissoud C, Rudigoz R. [Trisomy 21 by isochromosome: a case report of true false negative of chorionic villi sampling]. Gynecol Obstet Fertil. 2011;39:e77-80 pubmed publisher
    ..This postnatal karyotype showed a trisomy 21, by isochromosome 46,XX,i(21)(q10). We expose the mechanism of true false negative of chorionic villi sampling, and particularly the role of isochromosome in this case. ..
  6. Conlin L, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, et al. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A. 2012;158A:3046-53 pubmed publisher
    ..These highlight the power of SNP arrays in detecting and characterizing the isochromosome 12p in Pallister-Killian syndrome as well as underscoring the important utility of traditional cytogenetic techniques. ..
  7. Boyle J, Sangha K, Dill F, Robinson W, Yong S. Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. Am J Med Genet. 2001;101:65-9 pubmed
    ..Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells. This case raises important genetic counseling issues concerning recurrence risks. ..
  8. Shen Y, Xue Y, Li J, Guo Y, Wu Y, Pan J. Pentasomy 8q resulting from duplication of isochromosome 8q in chronic myelomonocytic leukemia. Leuk Lymphoma. 2002;43:207-10 pubmed
  9. Sheth F, Sheth J, Desai C. Case of near triploidy with i(17)(q10) in blast crisis CML. Cancer Genet Cytogenet. 2006;164:177-8 pubmed

More Information

Publications109 found, 100 shown here

  1. Clawson K, Donner L, Dobin S. Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. Cancer Genet Cytogenet. 2001;128:11-3 pubmed
    ..Only two cytogenetically analyzed cases of this tumor were previously reported and structural chromosomal abnormalities in each tumor were different. ..
  2. DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet. 2006;70:145-50 pubmed
    ..Analyses of gonadal tissues from the individual with sexual ambiguity and of three of the five female patients gave results concordant with their phenotype, allowing us to better understand the sexual differentiation of these patients. ..
  3. Smith A, Shaw P, Webster B, Lammi A, Gaskin K, Diaz S, et al. Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome. Pediatr Hematol Oncol. 2002;19:525-8 pubmed
    ..During this time, the boy has been clinically well without leukemic signs, managed conservatively. We suggest that deletion 20q may be a non random secondary change in SDS with i(7q). ..
  4. Sahoo T, Naeem R, Pham K, Chheng S, Noblin S, Bacino C, et al. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. Am J Med Genet A. 2005;133A:93-8 pubmed
    ..This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isochromosome cases may be more common than appreciated. ..
  5. Sharma P, Asztalos Z, Ayyub C, de Bruyne M, Dornan A, Gómez Hernández A, et al. Isogenic autosomes to be applied in optimal screening for novel mutants with viable phenotypes in Drosophila melanogaster. J Neurogenet. 2005;19:57-85 pubmed
    ..The lines generated are now being used as target chromosomes in mutagenesis screens, and the characterization reported here will facilitate their use in screens of these lines for behavioral and other viable phenotypes. ..
  6. Pal S, Siti M, Ankathil R, Zilfalil B. Two cases of isochromosome 18q syndrome. Singapore Med J. 2007;48:e146-50 pubmed
    ..We report two cases of isochromosome 18q, one male aged two years old and the other a male aged eight months old, and review the literature on this rare syndrome. ..
  7. Reddy K, Huang B. Prenatal management of mosaic tetrasomy 5p. Prenat Diagn. 2003;23:82-5 pubmed
  8. Kanagal Shamanna R, Bueso Ramos C, Barkoh B, Lu G, Wang S, Garcia Manero G, et al. Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53. Cancer. 2012;118:2879-88 pubmed publisher
    ..The authors conclude that myeloid neoplasms with isolated isochromosome 17q represent a distinct clinicopathologic entity with myelodysplastic and myeloproliferative features, high risk of leukemic transformation, and wild-type TP53. ..
  9. Tanriverdi N, Demirhan O, Süleymanova D, Pazarbasi A. Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey. Turk J Med Sci. 2017;47:1447-1455 pubmed publisher
    ..7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19...
  10. Berend S, Shaffer L, Bejjani B. Pure trisomy 10p involving an isochromosome 10p. Clin Genet. 1999;55:367-71 pubmed
    ..In contrast, the clinical features described in the current case represent pure trisomy 10p and, thus, delineate the 10p trisomy syndrome phenotype. Mechanisms of the chromosomal rearrangements in this case are suggested. ..
  11. Verver E, Freriks K, Thomeer H, Huygen P, Pennings R, Alfen van der Velden A, et al. Ear and hearing problems in relation to karyotype in children with Turner syndrome. Hear Res. 2011;275:81-8 pubmed publisher
    ..It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS...
  12. Chen C. Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver. Prenat Diagn. 2003;23:85-7 pubmed
  13. Douet Guilbert N, Lai J, Basinko A, Gueganic N, Andrieux J, Pollet B, et al. Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome. Br J Haematol. 2008;143:716-20 pubmed publisher
  14. Koumbaris G, Hatzisevastou Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, et al. FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Hum Mol Genet. 2011;20:1925-36 pubmed publisher
    ..By analyzing a large number of isochromosomes of the long arm of chromosome X (i(Xq)), using whole-genome tiling path array comparative genomic ..
  15. Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris G, et al. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH). In Vivo. 2006;20:473-8 pubmed
    ..FISH and molecular studies have greatly facilitated the characterization of marker chromosomes. As more SMCs are classified, better genetic counseling and risk evaluation can be achieved. ..
  16. Guttenbach M, Steinlein C, Engel W, Schmid M. Cytogenetic characterization of the TM4 mouse Sertoli cell line. I. Conventional banding techniques, FISH and SKY. Cytogenet Cell Genet. 2001;94:71-8 pubmed
    ..SKY identified the markers as a translocation chromosome T(1;3), isochromosomes 11 and 18 and two different-sized microchromosomes...
  17. Wu Y, Yu M, Chen L, Chen C, Yang M. Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. Am J Med Genet A. 2003;117A:278-81 pubmed
    ..Mosaic tetrasomy 10p was confirmed using fluorescent in situ hybridization (FISH) of a 10p-specific probe to metaphase chromosomes of this patient. ..
  18. Poulos C, Cheng L, Zhang S, Gersell D, Ulbright T. Analysis of ovarian teratomas for isochromosome 12p: evidence supporting a dual histogenetic pathway for teratomatous elements. Mod Pathol. 2006;19:766-71 pubmed
    ..Furthermore, the findings of i(12p) in both the teratomatous and nonteratomatous components of ovarian mixed GCTs supports that the teratoma derives from other components, similar to the situation in the testis. ..
  19. Schaad K, Strombeck B, Mandahl N, Andersen M, Heim S, Mertens F, et al. FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2: implications for formation and pathogenetic outcome of the idic(7)(p11.2). Cytogenet Genome Res. 2006;114:126-30 pubmed
    ..The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region. ..
  20. Fink S, Smoley S, Stockero K, Paternoster S, Thorland E, Van Dyke D, et al. Loss of TP53 is due to rearrangements involving chromosome region 17p10 approximately p12 in chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2006;167:177-81 pubmed
    ..Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL. ..
  21. Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, et al. Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male. Cytogenet Genome Res. 2007;118:38-41 pubmed
    We report on the investigation of the parental origin and mode of formation of the two isochromosomes, i(2p) and i(2q), detected in a healthy adult male...
  22. Chapiro E, Lesty C, Gabillaud C, Durot E, Bouzy S, Armand M, et al. "Double-hit" chronic lymphocytic leukemia: An aggressive subgroup with 17p deletion and 8q24 gain. Am J Hematol. 2017;: pubmed publisher
    ..Various chromosomal abnormalities (including unbalanced translocations, deletions, ring chromosomes and isochromosomes) result in the loss of 17p and one copy of the TP53 gene...
  23. Hanna N, Ulbright T, Einhorn L. Primary choriocarcinoma of the bladder with the detection of isochromosome 12p. J Urol. 2002;167:1781 pubmed
  24. Manola K, Karakosta M, Sambani C, Terzoudi G, Pagoni M, Gatsa E, et al. Isochromosome der(17)(q10)t(15;17) in acute promyelocytic leukemia resulting in an additional copy of the RARA-PML fusion gene: report of 4 cases and review of the literature. Acta Haematol. 2010;123:162-70 pubmed publisher
    ..Cases of overrepresentation of the RARA-PML fusion gene and ider(17q) cases may help in elucidating the role of RARA-PML in leukemogenesis. ..
  25. Williams M, Josephson K, Gursoy N, Jackson Cook C. Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm. Genet Med. 2001;3:318-20 pubmed
    ..The father was counseled that he might have gonadal mosaicism for isochromosomes 18p and 18q, which could confer a high recurrence risk...
  26. Travert M, Huang Y, de Leval L, Martin Garcia N, Delfau Larue M, Berger F, et al. Molecular features of hepatosplenic T-cell lymphoma unravels potential novel therapeutic targets. Blood. 2012;119:5795-806 pubmed publisher
    ..Our results identify a distinct molecular signature for HSTL and highlight oncogenic pathways that offer rationale for exploring new therapeutic options such as Syk inhibitors and demethylating agents. ..
  27. Noel T. The cellular and molecular defense mechanisms of the Candida yeasts against azole antifungal drugs. J Mycol Med. 2012;22:173-8 pubmed publisher
    ..This review proposes to explore the different molecular strategies that are used by Candida yeasts to fight azole antifungals...
  28. Adeyinka A, Smoley S, Fink S, Sanchez J, Van Dyke D, Dewald G. Isochromosome (X)(p10) in hematologic disorders: FISH study of 14 new cases show three types of centromere signal patterns. Cancer Genet Cytogenet. 2007;179:25-30 pubmed
    ..In contrast, only 17 patients with X isochromosomes involving break and fusion points at the centromere i(X)(p10) have been published, to our knowledge...
  29. Magrini E, Pragliola A, Fantasia D, Calabrese G, Gaiba A, Farnedi A, et al. Acquisition of i(8q) as an early event in malignant triton tumors. Cancer Genet Cytogenet. 2004;154:150-5 pubmed
    ..The acquired Robertsonian chromosomal recombinants might represent an event in the tumorigenesis of MTT, and the present data suggest that genes located on 8q can be involved in the development of MTT. ..
  30. Pinheiro R, Chauffaille M, Silva M. Isochromosome 17q in MDS: a marker of a distinct entity. Cancer Genet Cytogenet. 2006;166:189-90 pubmed
  31. Kusiak A, Sadlak Nowicka J, Limon J, Kochanska B. Root morphology of mandibular premolars in 40 patients with Turner syndrome. Int Endod J. 2005;38:822-6 pubmed
    ..No significant difference was found between the three groups of Turner syndrome. Highly significant differences in root morphology of mandibular premolars between patients with Turner syndrome and a population control group were found. ..
  32. Oshrine B, Olsen M, Heneghan M, Wertheim G, Daber R, Wilmoth D, et al. Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor. Cancer Genet. 2014;207:153-9 pubmed publisher
    ..Although these represent commonly mutated genes in cancer, this combination of mutations is not typically associated with either GCT or AMKL, suggesting that these tumors may represent unique biologic entities when they co-occur. ..
  33. Noronha Dutra A, Mancini T, Satomi Takeno S, Moysés Oliveira M, Kim C, Alvarez Perez A, et al. Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy. Cytogenet Genome Res. 2012;138:1-4 pubmed
    ..Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar ..
  34. Fadl Elmula I, Kytola S, Pan Y, Lui W, Derienzo G, Forsberg L, et al. Characterization of chromosomal abnormalities in uroepithelial carcinomas by G-banding, spectral karyotyping and FISH analysis. Int J Cancer. 2001;92:824-31 pubmed
  35. Selmecki A, Gerami Nejad M, Paulson C, Forche A, Berman J. An isochromosome confers drug resistance in vivo by amplification of two genes, ERG11 and TAC1. Mol Microbiol. 2008;68:624-41 pubmed publisher
    ..Thus, the major mechanism by which i(5L) formation causes increased azole resistance is by amplifying two genes: ERG11 and TAC1...
  36. Meggendorfer M, Bacher U, Alpermann T, Haferlach C, Kern W, Gambacorti Passerini C, et al. 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. Leukemia. 2013;27:1852-60 pubmed publisher
    ..001 for both) and were mutually exclusive of JAK2 and TET2 mutations. In conclusion, SETBP1mut add an important new diagnostic marker for MDS/MPN and in particular for aCML. ..
  37. Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, et al. Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. J Med Genet. 2002;39:E4 pubmed
  38. Narukawa J, Yamamoto K, Ohtani T, Sugiyama S. Imaging of silkworm meiotic chromosome by atomic force microscopy. Scanning. 2007;29:123-7 pubmed
    ..These observations suggested that AFM study is an excellent approach for obtaining information concerning the silkworm pachytene chromosome higher order structure. ..
  39. Theisen A, Rosenfeld J, Farrell S, Harris C, Wetzel H, Torchia B, et al. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. Am J Med Genet A. 2009;149A:914-8 pubmed publisher
  40. Codina Pascual M, Oliver Bonet M, Navarro J, Starke H, Liehr T, Gutierrez Mateo C, et al. FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male. Am J Med Genet A. 2004;127A:302-6 pubmed
    ..8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32 ..
  41. Wright K, von der Embse K, Coleman J, Patay Z, Ellison D, Gajjar A. Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases. Pediatr Blood Cancer. 2012;59:561-4 pubmed publisher
    ..Here, we present the clinical course and treatment of an almost 4-year-old girl with MMB that was characterized by MYC amplification, isochromosome 17q and large cell/anaplastic histopathology. ..
  42. Johansson B, Axelsson P, Billström R, Strombeck B, Arheden K, Olofsson T, et al. Isodicentric 7p, idic(7)(q11.2), in acute myeloid leukemia associated with older age and favorable response to induction chemotherapy: a new clinical entity?. Genes Chromosomes Cancer. 2001;30:261-6 pubmed
    ..2 suggest that the important functional outcome of the idic(7)(q11.2) is the genomic imbalance incurred, i.e., gain of 7p and loss of 7q material, rather than a rearrangement of a specific gene...
  43. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Hoglund M, et al. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. 2004;74:1-10 pubmed
  44. Silengo M, Rulli I, Delmonaco A, Ferrero G, Pucci A, Sanna R. Truncus arteriosus and isochromosome 8q. Am J Med Genet A. 2005;133A:223-4 pubmed
  45. Goumy C, Beaufrere A, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, et al. Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype. Prenat Diagn. 2005;25:653-5 pubmed
    ..So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype...
  46. Wang H, Wilson K, McKenna R, Xu Y, Karandikar N. An extranodal nasal natural killer/T-cell lymphoma with isochromosome 7q10 as the sole cytogenetic aberration was initially diagnosed via bone marrow biopsy. Arch Pathol Lab Med. 2007;131:1709-14 pubmed
    ..To our knowledge, this is the first report demonstrating i(7)(q10) as a primary cytogenetic abnormality in an extranodal nasal natural killer cell lymphoma...
  47. Kowalczyk J, Babicz M, Gaworczyk A, Lejman M, Winnicka D, Styka B, et al. Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrangements detected by comparative genomic hybridization in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2010;200:161-6 pubmed publisher
    ..8%) displaying a different abnormalities including deletions, trisomies, tetrasomies, isochromosomes, and markers with unknown origin. However, all samples were successfully analyzed by CGH...
  48. Collado R, Puiggros A, López Guerrero J, Calasanz M, Larráyoz M, Ivars D, et al. Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes. Cancer Lett. 2017;409:42-48 pubmed publisher
    ..044). In conclusion, our findings provide new insights regarding i(17q) in CLL and show a subgroup with adverse prognostic features. ..
  49. Rubin B, Pins M, Nielsen G, Rosen S, Hsi B, Fletcher J, et al. Isochromosome 7q in adult Wilms' tumors: diagnostic and pathogenetic implications. Am J Surg Pathol. 2000;24:1663-9 pubmed
    ..These genetic features may be helpful in distinguishing adult Wilms' tumors from other primary renal tumors...
  50. Henderson L, Okamoto I, Lestou V, Ludkovski O, Robichaud M, Chhanabhai M, et al. Delineation of a minimal region of deletion at 6q16.3 in follicular lymphoma and construction of a bacterial artificial chromosome contig spanning a 6-megabase region of 6q16-q21. Genes Chromosomes Cancer. 2004;40:60-5 pubmed
    ..A BAC contig spanning a 6-Mb region has been anchored to the 6q16.2-q21 region. This map represents a useful resource for gene identification in this region, not only in lymphoma but also in other neoplasms with 6q alterations...
  51. Bugge M, Delozier Blanchet C, Bak M, Brandt C, Hertz J, Nielsen J, et al. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am J Med Genet A. 2005;132A:310-3 pubmed
    ..Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin...
  52. Panani A. Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia. In Vivo. 2006;20:359-60 pubmed
    ..The cytogenetic findings supported the hypothesis that i(5p) may represent a primary abnormality, which characterizes a small subset of AML cases...
  53. Mihara K, Kido M, Nakaju N, Fukumoto S, Matsumoto R, Takihara Y, et al. [Exacerbation of acute leukemia bearing isolated i(17q) along with proliferation of blasts with high BMI-1 expression]. Rinsho Ketsueki. 2007;48:659-63 pubmed
  54. Herry A, Douet Guilbert N, Morel F, LE Bris M, Gueganic N, Berthou C, et al. Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders. Cancer Genet Cytogenet. 2010;200:134-9 pubmed publisher
    ..The biological and clinical significance cannot yet be assessed, not only because too few cases have been described but also because these abnormalities are usually part of a complex karyotype...
  55. Panani A. Isochromosome 5p, a novel recurrent abnormality in breast cancer: is it a common abnormality in cancer?. In Vivo. 2010;24:715-7 pubmed
    ..Isochromosome i(5p) is a frequent finding in several types of cancer but it has been rarely described in breast cancer. The aim of the present study was to investigate the presence of i(5p) in primary breast tumors...
  56. Dolgova O, Rego C, Calabria G, Balanyà J, Pascual M, Rezende E, et al. Genetic constraints for thermal coadaptation in Drosophila subobscura. BMC Evol Biol. 2010;10:363 pubmed publisher
    ..Yet, it is not clear whether a genetic correlation between thermal preference and heat tolerance can partially underlie such response...
  57. Rizell S, Barrenas M, Andlin Sobocki A, Stecksen Blicks C, Kjellberg H. Turner syndrome isochromosome karyotype correlates with decreased dental crown width. Eur J Orthod. 2012;34:213-8 pubmed publisher
    ..controls, while 45,X individuals seemed to display an intermediate tooth width compared with 45,X/46,XX and isochromosomes. No significant difference in crown width was found comparing the groups with one or two intact X chromosomal ..
  58. Vijay S, Sarojam S, Raveendran S, Syamala V, Leelakumari S, Narayanan G, et al. Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India. Chin J Cancer. 2012;31:45-50 pubmed publisher
    ..Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML...
  59. de Oliveira F, de Carvalho Palma L, Falcao R, Simões B. A new dic(7;12)(p12.21;p12.2) and i(12)(q10) during the lymphoid blast crisis of patient with Ph+ chronic myeloid leukemia. Med Oncol. 2012;29:2332-6 pubmed publisher
    ..21;p12.2) and i(12)(q10) using classical cytogenetics and spectral karyotype analysis. To the best of our knowledge, this is the first report of t(7;12)(p11.1;q11.1) and i(12)(q10) in a CML patient with lymphoid evolution...
  60. Li M, Howard Peebles P, Killos L, Fallon L, Listgarten E, Stanley W. Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis. Prenat Diagn. 2000;20:138-43 pubmed
    ..Our study demonstrated that molecular characterization of prenatal marker chromosomes is of great significance in facilitating phenotype-genotype correlation...
  61. McGowan K, Weiser J, Horwitz J, Berend S, McCaskill C, Sutton V, et al. The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn. 2002;22:141-3 pubmed
    ..The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes.
  62. Anderson C, Punnett H, Huff V, de Chadarevian J. Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18. Am J Med Genet A. 2003;121A:52-5 pubmed
  63. Bugge M, Brandt C, Petersen M. DNA studies of mono- and pseudodicentric isochromosomes 18q. Am J Med Genet A. 2004;127A:230-3 pubmed
    The description of isochromosomes 18 has so far mainly been by cytogenetic studies and based on identical banding pattern of the two arms...
  64. Bien Willner G, Stankiewicz P, Lupski J, Northup J, Velagaleti G. Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005;79:309-13 pubmed
    ..2), discuss the potential prognostic value of this molecular diagnostic test, and examine the relevance of LCR-mediated NAHR to common rearrangements in neoplasms...
  65. Ligon A, DeAngelo D, Atkins L, Dal Cin P. Isochromosome of a deleted 20q may be a relatively common abnormality in myeloid malignancies. Cancer Genet Cytogenet. 2005;162:89-91 pubmed
  66. Yamamoto H, Fukuda M, Murakami H, Kamiyama N, Miyamoto Y. A case of Pallister-Killian syndrome associated with West syndrome. Pediatr Neurol. 2007;37:226-8 pubmed
    ..To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome...
  67. Xue Y, Han Y, Li T, Chen S, Zhang J, Pan J, et al. Pulmonary alveolar proteinosis as a terminal complication in a case of myelodysplastic syndrome with idic(20q-). Acta Haematol. 2010;123:55-8 pubmed publisher
    ..To our knowledge, this is the first MDS patient with idic(20q-) and secondary PAP to be reported in the literature. Moreover, this patient is also the 29th MDS case with idic(20q-)...
  68. Brambila Tapia A, Figuera L, Vázquez Cárdenas N, Ramírez Torres V, Vázquez Velázquez A, García Contreras C, et al. The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case. Genet Couns. 2010;21:277-83 pubmed
    ..All the blood tests were normal, while the magnetic resonance imaging reported mild demyelination and polymicrogyria. The karyotype was 47,XX,+i(18)(p10).ish i(18)(plO)(D18Z1+) de novo...
  69. Shah K, George R, Balla E, Oommen S, Padankatti C, Srivastava V, et al. An Indian boy with additional features in Pallister-Killian syndrome. Indian J Pediatr. 2012;79:1238-40 pubmed publisher
    ..This case highlights the importance of dysmorphology as a diagnostic tool for recognition and accurate genetic counseling in genetic syndromes...
  70. Martínez J, Perez Escuredo J, Llorente J, Suarez C, Hermsen M. Localization of centromeric breaks in head and neck squamous cell carcinoma. Cancer Genet. 2012;205:622-9 pubmed publisher
    ..This indicates that whole chromosome arm translocation breakpoints occur within the pericentromeric chromatin and not the centromere core sequences...
  71. Wang J, Vaccarello Cruz M, Ross L, Owen R, Pratt V, Lightman K, et al. Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype. Am J Med Genet A. 2013;161A:1695-701 pubmed publisher
    ..Interestingly, balanced and unbalanced chromosomal aberrations in the form of Robertsonian translocation, isochromosomes, supernumerary marker chromosomes and copy number variations have been strongly linked with the occurrence of ..
  72. Yang X, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler Thromb Vasc Biol. 1999;19:1950-5 pubmed
    ..999). Maternal isodisomy (maternal UPD 4q) was the basis for homozygosity of the MTP gene mutation in this patient...
  73. Berend S, Hale D, Engstrom M, Greenbaum I. Cytogenetics of collared lemmings (Dicrostonyx groenlandicus). II. Meiotic behavior of B chromosomes suggests a Y-chromosome origin of supernumerary chromosomes. Cytogenet Cell Genet. 2001;95:85-91 pubmed
    ..However, the frequent synapsis and apparent recombination between B chromosomes and the Y chromosome implicate this sex chromosome as a possible source of the B chromosomes in collared lemmings...
  74. Mukherjee S, Pandit K. Gonadal dysgenesis due to isochromosome formation. J Assoc Physicians India. 2002;50:1090 pubmed
  75. Vincent S, Mirshari M, Nicolas C, Adenis C, Dhellemmes P, Soto Ares G, et al. Large-cell medulloblastoma with arrestin-like protein expression. Clin Neuropathol. 2003;22:1-9 pubmed
    ..This case corresponds to a new entity of large-cell medulloblastoma. The potential role of a new marker linked to a beta2 adrenergic receptor needs further molecular characterization to be useful...
  76. Leung E, Woodman R, Roland B, Abdelhaleem M, Freedman M, Dror Y. Transient myelodysplastic syndrome associated with isochromosome 7q abnormality. Pediatr Hematol Oncol. 2003;20:539-45 pubmed
    ..This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease...
  77. Baker J, Coppes M, Roland B. A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp. Cancer Genet Cytogenet. 2003;147:75-7 pubmed
    ..Here we report a novel karyotype in childhood ALL and review the eight previously described cases of ALL with an extra X isochromosome as the only acquired abnormality...
  78. Marcus Soekarman D, Hamers G, Mulder A, Offermans J, Offermans J, Engelen J, et al. Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype. Prenat Diagn. 2005;25:279-82 pubmed
    ..Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed...
  79. Han Y, Xue Y, Li T, Zhang J, Chen S, Pan J, et al. [Report of ten cases of hematologic malignancies with idic(20q-) and literature review]. Zhonghua Xue Ye Xue Za Zhi. 2011;32:17-20 pubmed
    ..To analyze the clinical and molecular cytogenetic features of hematologic malignancies with idic(20q-)...
  80. Rizell S, Barrenäs M, Andlin Sobocki A, Stecksen Blicks C, Kjellberg H. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome. Eur J Orthod. 2013;35:467-74 pubmed publisher
    ..b>Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X...
  81. Lange J, Noordam M, van Daalen S, Skaletsky H, Clark B, Macville M, et al. Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. Genomics. 2013;102:257-64 pubmed publisher
    ..These findings highlight the recombinogenic nature of the MSY, as intrachromosomal NAHR occurs for nearly all Y-chromosome amplicon pairs, even those located on opposing chromosome arms...
  82. Prakash S, Guo D, Maslen C, Silberbach M, Milewicz D, Bondy C. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014;16:53-9 pubmed publisher
    ..We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations...
  83. Bay J, Bignon Y, Gros P, Jancovici R, Desangles F, Dubayle P, et al. Giant cell tumor of the sternum. Report of a case with a 17q isochromosome. Rev Rhum Engl Ed. 1999;66:49-52 pubmed
    ..The TP53 suppressor gene is located at 17q13.1. Whether loss of one of the TP53 alleles may have contributed to the aggressive behavior of our patient's tumor is discussed...
  84. Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. Am J Med Genet. 2000;91:99-101 pubmed
    ..Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism)...
  85. Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, et al. Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature. Am J Med Genet. 2001;99:196-9 pubmed
    ..Analysis of digestion patterns with a methylation-sensitive restriction endonuclease of the phosphoglycerate kinase 1 gene, located in Xq13.3, indicated that its inactivation patterns were completely skewed...
  86. Okada Y, Nishikawa R, Matsutani M, Louis D. Hypomethylated X chromosome gain and rare isochromosome 12p in diverse intracranial germ cell tumors. J Neuropathol Exp Neurol. 2002;61:531-8 pubmed
    ..germ cell tumors and the predisposition in Klinefelter syndrome patients for these lesions, the data argue strongly that sex chromosome aberrations, rather than isochromosome 12p, are integral to intracranial germ cell tumorigenesis..
  87. Cazorla Calleja M, Verdu A, Félix V. Dandy-Walker malformation in an infant with tetrasomy 9p. Brain Dev. 2003;25:220-3 pubmed
  88. Zahed L, Oreibi G, El Amine H, Obeid M, Bitar F. A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. Am J Med Genet A. 2004;128A:60-2 pubmed
    ..We report here a second case of a de novo chromosome 4 whole arm translocation with short-arm isochromosome formation, which we have delineated further by FISH studies...
  89. Liberati M, Melchiorre K, D Emilio I, Guanciali Franchi P, Iezzi I, Rotmensch S, et al. Fetal facial profile in Pallister-Killian syndrome. Fetal Diagn Ther. 2008;23:15-7 pubmed
    ..An abnormal fetal facial profile is described prenatally as sonographic evidence of PKS. We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS...
  90. Sukov W, Cheville J, Giannini C, Carlson A, Shearer B, Sinnwell J, et al. Isochromosome 12p and polysomy 12 in primary central nervous system germ cell tumors: frequency and association with clinicopathologic features. Hum Pathol. 2010;41:232-8 pubmed publisher
    ..These results suggest that fluorescence in situ hybridization studies for isochromosome 12p or polysomy 12 may have limited use in the evaluation of these rare neoplasms...
  91. Kim M, Lee S, Park H, Oh E, Park C, Lim J, et al. Two distinct clonal populations in acute promyelocytic leukemia, one involving chromosome 17 and the other involving an isochromosome 17. Cancer Genet Cytogenet. 2010;197:185-8 pubmed publisher
    ..The case reported here presents the novel finding of two separate clonal events apparently occurring at the same time in an APL patient...
  92. Herou E, Biloglav A, Johansson B, Paulsson K. Partial 17q gain resulting from isochromosomes, unbalanced translocations and complex rearrangements is associated with gene overexpression, older age and shorter overall survival in high hyperdiploid childhood acute lymphoblastic leukemia. Leukemia. 2013;27:493-6 pubmed publisher