U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Isodicentric Chromosome

MedGen UID:
273402
•Concept ID:
C1517604
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsodicentric Chromosome

Professional guidelines

PubMed

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W
Gene 2013 Oct 15;529(1):163-8. Epub 2013 Aug 8 doi: 10.1016/j.gene.2013.07.050. PMID: 23933417

Recent clinical studies

Etiology

Optical Genome Mapping Reveals and Characterizes Recurrent Aberrations and New Fusion Genes in Adult ALL.
Vieler LM, Nilius-Eliliwi V, Schroers R, Vangala DB, Nguyen HP, Gerding WM
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030686. PMID: 36980958Free PMC Article
B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.
Verdoni AM, Zilla ML, Bullock G, Guinipero TL, Meade J, Yatsenko SA
Am J Med Genet A 2022 Aug;188(8):2325-2330. Epub 2022 Jun 9 doi: 10.1002/ajmg.a.62864. PMID: 35678493
Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature.
El Fekih S, Gueganic N, Tous C, Douet-Guilbert N, Blesson S, Morel F, Perrin A
Cytogenet Genome Res 2022;162(1-2):34-39. Epub 2022 Apr 7 doi: 10.1159/000523916. PMID: 35390789
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP.
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684
Delineating the association between isodicentric chromosome Y and infertility: a retrospective study.
Kalantari H, Asia S, Totonchi M, Vazirinasab H, Mansouri Z, Zarei Moradi S, Haratian K, Gourabi H, Mohseni Meybodi A
Fertil Steril 2014 Apr;101(4):1091-6. Epub 2014 Feb 4 doi: 10.1016/j.fertnstert.2013.12.048. PMID: 24502892

Diagnosis

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
Dangles MT, Malan V, Dumas G, Romana S, Raoul O, Coste-Zeitoun D, Soufflet C, Vignolo-Diard P, Bahi-Buisson N, Barnérias C, Chemaly N, Desguerre I, Gitiaux C, Hully M, Bourgeois M, Guimier A, Rio M, Munnich A, Nabbout R, Kaminska A, Eisermann M
Clin Neurophysiol 2021 May;132(5):1126-1137. Epub 2021 Mar 10 doi: 10.1016/j.clinph.2021.02.010. PMID: 33773177
Electroclinical features of epilepsy in patients with InvDup(15).
Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P
Seizure 2017 Apr;47:87-91. Epub 2017 Mar 9 doi: 10.1016/j.seizure.2017.03.006. PMID: 28343008
Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W
Gene 2013 Oct 15;529(1):163-8. Epub 2013 Aug 8 doi: 10.1016/j.gene.2013.07.050. PMID: 23933417
Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18.
Zhang Y, Dai Y, Ren J, Wang L
Ann Saudi Med 2010 Nov-Dec;30(6):489-92. doi: 10.4103/0256-4947.70578. PMID: 20864786Free PMC Article
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M
Prenat Diagn 2006 Apr;26(4):324-9. doi: 10.1002/pd.1406. PMID: 16521154

Therapy

Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP.
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684
A survey of seizures and current treatments in 15q duplication syndrome.
Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL
Epilepsia 2014 Mar;55(3):396-402. Epub 2014 Feb 6 doi: 10.1111/epi.12530. PMID: 24502430
Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma.
Roug AS, Wendtland P, Bendix K, Kjeldsen E
Cytogenet Genome Res 2014;142(1):7-13. Epub 2013 Nov 8 doi: 10.1159/000355985. PMID: 24217199
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L
Hum Mol Genet 2010 Sep 1;19(17):3383-93. Epub 2010 Jun 22 doi: 10.1093/hmg/ddq250. PMID: 20570968Free PMC Article
Dicentric chromosomes and the inactivation of the centromere.
Therman E, Trunca C, Kuhn EM, Sarto GE
Hum Genet 1986 Mar;72(3):191-5. doi: 10.1007/BF00291876. PMID: 3456974

Prognosis

Electroclinical features of epilepsy in patients with InvDup(15).
Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P
Seizure 2017 Apr;47:87-91. Epub 2017 Mar 9 doi: 10.1016/j.seizure.2017.03.006. PMID: 28343008
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP.
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684
Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
Bien-Willner GA, López-Terrada D, Bhattacharjee MB, Patel KU, Stankiewicz P, Lupski JR, Pfeifer JD, Perry A
Neuro Oncol 2012 Jul;14(7):831-40. Epub 2012 May 9 doi: 10.1093/neuonc/nos086. PMID: 22573308Free PMC Article
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ
Eur J Med Genet 2011 Mar-Apr;54(2):161-4. Epub 2010 Nov 13 doi: 10.1016/j.ejmg.2010.11.002. PMID: 21078420
A mosaic case of isodicentric chromosome 18.
Fujiwara M, Kamasaki H, Morita Y, Kamada M
Acta Paediatr Jpn 1992 Oct;34(5):534-8. doi: 10.1111/j.1442-200x.1992.tb01002.x. PMID: 1442026

Clinical prediction guides

Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.
Chadwick BP
Chromosome Res 2020 Jun;28(2):155-169. Epub 2019 Nov 27 doi: 10.1007/s10577-019-09621-1. PMID: 31776830Free PMC Article
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ
Eur J Med Genet 2011 Mar-Apr;54(2):161-4. Epub 2010 Nov 13 doi: 10.1016/j.ejmg.2010.11.002. PMID: 21078420
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.
Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L
Hum Mol Genet 2010 Sep 1;19(17):3383-93. Epub 2010 Jun 22 doi: 10.1093/hmg/ddq250. PMID: 20570968Free PMC Article
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
McDonell N, Ramser J, Francis F, Vinet MC, Rider S, Sudbrak R, Riesselman L, Yaspo ML, Reinhardt R, Monaco AP, Ross F, Kahn A, Kearney L, Buckle V, Chelly J
Genomics 2000 Mar 15;64(3):221-9. doi: 10.1006/geno.2000.6128. PMID: 10756090
Dicentric chromosomes and the inactivation of the centromere.
Therman E, Trunca C, Kuhn EM, Sarto GE
Hum Genet 1986 Mar;72(3):191-5. doi: 10.1007/BF00291876. PMID: 3456974

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...