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Abnormality of chromosome stability

MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
HPO: HP:0003220

Definition

A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. [from HPO]

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites.
Fanconi anemia complementation group B
MedGen UID:
336901
Concept ID:
C1845292
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Scleroderma, familial progressive
MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.
Intrauterine growth retardation with increased mitomycin c sensitivity
MedGen UID:
419040
Concept ID:
C2931307
Disease or Syndrome
N syndrome
MedGen UID:
424834
Concept ID:
C2936859
Disease or Syndrome
Syndrome that is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed.
Fanconi anemia complementation group G
MedGen UID:
854017
Concept ID:
C3469527
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Mosaic variegated aneuploidy syndrome 4
MedGen UID:
1824040
Concept ID:
C5774267
Disease or Syndrome
Mosaic variegated aneuploidy syndrome-4 (MVA4) is an autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy (de Wolf et al., 2021).

Professional guidelines

PubMed

Baviskar T, Momin M, Liu J, Guo B, Bhatt L
Curr Drug Targets 2021;22(7):722-733. doi: 10.2174/1389450121666201119141015. PMID: 33213339
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Joseph NS, Gentili S, Kaufman JL, Lonial S, Nooka AK
Clin Lymphoma Myeloma Leuk 2017 Jul;17S:S80-S87. doi: 10.1016/j.clml.2017.02.018. PMID: 28760306

Recent clinical studies

Etiology

Gupta S, Craig JW
Semin Diagn Pathol 2023 Nov;40(6):379-391. Epub 2023 Jun 30 doi: 10.1053/j.semdp.2023.06.005. PMID: 37451943
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Basbous J, Constantinou A
Crit Rev Biochem Mol Biol 2019 Feb;54(1):27-40. Epub 2019 Feb 4 doi: 10.1080/10409238.2019.1568963. PMID: 30714416
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article

Diagnosis

Gupta S, Craig JW
Semin Diagn Pathol 2023 Nov;40(6):379-391. Epub 2023 Jun 30 doi: 10.1053/j.semdp.2023.06.005. PMID: 37451943
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Sarogni P, Pallotta MM, Musio A
J Med Genet 2020 May;57(5):289-295. Epub 2019 Nov 8 doi: 10.1136/jmedgenet-2019-106277. PMID: 31704779Free PMC Article
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS
Nat Rev Dis Primers 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. PMID: 31537806Free PMC Article
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article

Therapy

Chen B, Dragomir MP, Fabris L, Bayraktar R, Knutsen E, Liu X, Tang C, Li Y, Shimura T, Ivkovic TC, De Los Santos MC, Anfossi S, Shimizu M, Shah MY, Ling H, Shen P, Multani AS, Pardini B, Burks JK, Katayama H, Reineke LC, Huo L, Syed M, Song S, Ferracin M, Oki E, Fromm B, Ivan C, Bhuvaneshwar K, Gusev Y, Mimori K, Menter D, Sen S, Matsuyama T, Uetake H, Vasilescu C, Kopetz S, Parker-Thornburg J, Taguchi A, Hanash SM, Girnita L, Slaby O, Goel A, Varani G, Gagea M, Li C, Ajani JA, Calin GA
Gastroenterology 2020 Dec;159(6):2146-2162.e33. Epub 2020 Aug 15 doi: 10.1053/j.gastro.2020.08.018. PMID: 32805281Free PMC Article
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072
Hernández-Saavedra D, Strakovsky RS, Ostrosky-Wegman P, Pan YX
Adv Nutr 2017 Nov;8(6):889-904. Epub 2017 Nov 15 doi: 10.3945/an.117.016402. PMID: 29141972Free PMC Article
Joseph NS, Gentili S, Kaufman JL, Lonial S, Nooka AK
Clin Lymphoma Myeloma Leuk 2017 Jul;17S:S80-S87. doi: 10.1016/j.clml.2017.02.018. PMID: 28760306
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

Prognosis

Shi S, Guo D, Ye L, Li T, Fei Q, Lin M, Yu X, Jin K, Wu W
Cell Death Dis 2023 Nov 27;14(11):778. doi: 10.1038/s41419-023-06313-x. PMID: 38012214Free PMC Article
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
Jonasch E, Walker CL, Rathmell WK
Nat Rev Nephrol 2021 Apr;17(4):245-261. Epub 2020 Nov 3 doi: 10.1038/s41581-020-00359-2. PMID: 33144689Free PMC Article
Bakhoum SF, Cantley LC
Cell 2018 Sep 6;174(6):1347-1360. doi: 10.1016/j.cell.2018.08.027. PMID: 30193109Free PMC Article
Joseph NS, Gentili S, Kaufman JL, Lonial S, Nooka AK
Clin Lymphoma Myeloma Leuk 2017 Jul;17S:S80-S87. doi: 10.1016/j.clml.2017.02.018. PMID: 28760306

Clinical prediction guides

Zolzaya S, Narumoto A, Katsuyama Y
Dev Growth Differ 2024 Jan;66(1):35-42. Epub 2023 Nov 2 doi: 10.1111/dgd.12898. PMID: 37855730
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
Holdgaard SG, Cianfanelli V, Pupo E, Lambrughi M, Lubas M, Nielsen JC, Eibes S, Maiani E, Harder LM, Wesch N, Foged MM, Maeda K, Nazio F, de la Ballina LR, Dötsch V, Brech A, Frankel LB, Jäättelä M, Locatelli F, Barisic M, Andersen JS, Bekker-Jensen S, Lund AH, Rogov VV, Papaleo E, Lanzetti L, De Zio D, Cecconi F
Nat Commun 2019 Sep 13;10(1):4176. doi: 10.1038/s41467-019-12094-9. PMID: 31519908Free PMC Article
Andriani GA, Vijg J, Montagna C
Mech Ageing Dev 2017 Jan;161(Pt A):19-36. Epub 2016 Mar 21 doi: 10.1016/j.mad.2016.03.007. PMID: 27013377Free PMC Article
Pino MS, Chung DC
Gastroenterology 2010 Jun;138(6):2059-72. doi: 10.1053/j.gastro.2009.12.065. PMID: 20420946Free PMC Article

Recent systematic reviews

Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S
Hum Reprod Update 2019 Jul 1;25(4):452-472. doi: 10.1093/humupd/dmz015. PMID: 31150545
Sha S, Abdelsabour H, Vijimohan SJ, Board T, Alshryda S
Surgeon 2019 Feb;17(1):52-57. Epub 2018 May 24 doi: 10.1016/j.surge.2018.04.008. PMID: 29803742
Mao X, Lillington DM, Czepulkowski B, Russell-Jones R, Young BD, Whittaker S
Genes Chromosomes Cancer 2003 Mar;36(3):250-60. doi: 10.1002/gcc.10152. PMID: 12557225

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