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Abnormality of chromosome segregation

MedGen UID:
871193
•Concept ID:
C4025670
•
Finding
HPO: HP:0002916

Definition

An abnormality of chromosome segregation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of chromosome segregation

Conditions with this feature

Pelger-Huët anomaly
MedGen UID:
10617
•Concept ID:
C0030779
•
Disease or Syndrome
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
See: Condition Record
Nondisjunction
MedGen UID:
320427
•Concept ID:
C1834741
•
Disease or Syndrome
Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction.
See: Condition Record
Solitary median maxillary central incisor syndrome
MedGen UID:
326686
•Concept ID:
C1840235
•
Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
See: Condition Record
FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
MedGen UID:
855519
•Concept ID:
C3890175
•
Finding
See: Condition Record
FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
Nondisjunction
Pelger-Huët anomaly
Solitary median maxillary central incisor syndrome

Professional guidelines

PubMed

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser D
Obstet Gynecol Clin North Am 2018 Mar;45(1):143-154. doi: 10.1016/j.ogc.2017.10.007. PMID: 29428282
Next-Generation Sequencing and Applications to the Diagnosis and Treatment of Lung Cancer.
Kruglyak KM, Lin E, Ong FS
Adv Exp Med Biol 2016;890:123-36. doi: 10.1007/978-3-319-24932-2_7. PMID: 26703802

Recent clinical studies

Etiology

Understanding etiology of chromosome 21 nondisjunction from gene × environment models.
Halder P, Pal U, Ganguly A, Ghosh P, Ray A, Sarkar S, Ghosh S
Sci Rep 2021 Nov 17;11(1):22390. doi: 10.1038/s41598-021-01672-x. PMID: 34789805Free PMC Article
Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Mechanisms of Aneuploidy in Human Eggs.
Webster A, Schuh M
Trends Cell Biol 2017 Jan;27(1):55-68. Epub 2016 Oct 20 doi: 10.1016/j.tcb.2016.09.002. PMID: 27773484
Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL
Wiley Interdiscip Rev Dev Biol 2015 Sep-Oct;4(5):489-504. Epub 2015 Apr 7 doi: 10.1002/wdev.190. PMID: 25847322Free PMC Article
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

Diagnosis

Aneuploidy renders cancer cells vulnerable to mitotic checkpoint inhibition.
Cohen-Sharir Y, McFarland JM, Abdusamad M, Marquis C, Bernhard SV, Kazachkova M, Tang H, Ippolito MR, Laue K, Zerbib J, Malaby HLH, Jones A, Stautmeister LM, Bockaj I, Wardenaar R, Lyons N, Nagaraja A, Bass AJ, Spierings DCJ, Foijer F, Beroukhim R, Santaguida S, Golub TR, Stumpff J, Storchová Z, Ben-David U
Nature 2021 Feb;590(7846):486-491. Epub 2021 Jan 27 doi: 10.1038/s41586-020-03114-6. PMID: 33505028Free PMC Article
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Next-Generation Sequencing and Applications to the Diagnosis and Treatment of Lung Cancer.
Kruglyak KM, Lin E, Ong FS
Adv Exp Med Biol 2016;890:123-36. doi: 10.1007/978-3-319-24932-2_7. PMID: 26703802
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article

Therapy

Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.
Verdyck P, Altarescu G, Santos-Ribeiro S, Vrettou C, Koehler U, Griesinger G, Goossens V, Magli C, Albanese C, Parriego M, Coll L, Ron-El R, Sermon K, Traeger-Synodinos J
Hum Reprod 2023 Dec 4;38(12):2526-2535. doi: 10.1093/humrep/dead201. PMID: 37814912
Centrosomal-associated Proteins: Potential therapeutic targets for solid tumors?
Luan Y, Li M, Zhao Y, Li Q, Wen J, Gao S, Yang Y
Biomed Pharmacother 2021 Dec;144:112292. Epub 2021 Oct 23 doi: 10.1016/j.biopha.2021.112292. PMID: 34700231
Next-Generation Sequencing and Applications to the Diagnosis and Treatment of Lung Cancer.
Kruglyak KM, Lin E, Ong FS
Adv Exp Med Biol 2016;890:123-36. doi: 10.1007/978-3-319-24932-2_7. PMID: 26703802
Topoisomerase IIα in chromosome instability and personalized cancer therapy.
Chen T, Sun Y, Ji P, Kopetz S, Zhang W
Oncogene 2015 Jul 30;34(31):4019-31. Epub 2014 Oct 20 doi: 10.1038/onc.2014.332. PMID: 25328138Free PMC Article
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

Prognosis

Cyclers' kinases in cell division: from molecules to cancer therapy.
Milletti G, Colicchia V, Cecconi F
Cell Death Differ 2023 Sep;30(9):2035-2052. Epub 2023 Jul 29 doi: 10.1038/s41418-023-01196-z. PMID: 37516809Free PMC Article
From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.
Lebedev IN, Zhigalina DI
J Assist Reprod Genet 2021 Nov;38(11):2833-2848. Epub 2021 Sep 13 doi: 10.1007/s10815-021-02304-z. PMID: 34518954Free PMC Article
The Multifaceted Role of Chromosomal Instability in Cancer and Its Microenvironment.
Bakhoum SF, Cantley LC
Cell 2018 Sep 6;174(6):1347-1360. doi: 10.1016/j.cell.2018.08.027. PMID: 30193109Free PMC Article
Preimplantation embryonic mosaicism: origin, consequences and the reliability of comprehensive chromosome screening.
Marin D, Scott RT Jr, Treff NR
Curr Opin Obstet Gynecol 2017 Jun;29(3):168-174. doi: 10.1097/GCO.0000000000000358. PMID: 28266934
Next-Generation Sequencing and Applications to the Diagnosis and Treatment of Lung Cancer.
Kruglyak KM, Lin E, Ong FS
Adv Exp Med Biol 2016;890:123-36. doi: 10.1007/978-3-319-24932-2_7. PMID: 26703802

Clinical prediction guides

Consequences of gaining an extra chromosome.
Torres EM
Chromosome Res 2023 Aug 25;31(3):24. doi: 10.1007/s10577-023-09732-w. PMID: 37620607Free PMC Article
Epigenetic dysregulation from chromosomal transit in micronuclei.
Agustinus AS, Al-Rawi D, Dameracharla B, Raviram R, Jones BSCL, Stransky S, Scipioni L, Luebeck J, Di Bona M, Norkunaite D, Myers RM, Duran M, Choi S, Weigelt B, Yomtoubian S, McPherson A, Toufektchan E, Keuper K, Mischel PS, Mittal V, Shah SP, Maciejowski J, Storchova Z, Gratton E, Ly P, Landau D, Bakhoum MF, Koche RP, Sidoli S, Bafna V, David Y, Bakhoum SF
Nature 2023 Jul;619(7968):176-183. Epub 2023 Jun 7 doi: 10.1038/s41586-023-06084-7. PMID: 37286593Free PMC Article
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855

Recent systematic reviews

Maternal germline factors associated with aneuploid pregnancy loss: a systematic review.
Blyth U, Craciunas L, Hudson G, Choudhary M
Hum Reprod Update 2021 Aug 20;27(5):866-884. doi: 10.1093/humupd/dmab010. PMID: 33969392

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