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Congenital chromosomal disease

MedGen UID:
3441
Concept ID:
C0008626
Disease or Syndrome
Synonyms: Chromosomal anomaly; Chromosomal disorder
SNOMED CT: Chromosomopathy (74345006); Chromosomal abnormality syndrome (74345006); Chromosomal hereditary disorder (74345006); Chromosomal imbalance syndrome (74345006); Anomaly of chromosome (74345006); Congenital chromosomal disease (74345006); Chromosomal disorder (409709004); Congenital disorder due to abnormality of chromosome number OR structure (74345006); Chromosomal anomaly (409709004)
 
Monarch Initiative: MONDO:0019040
Orphanet: ORPHA68335

Definition

A disorder that results from a chromosomal abnormality. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine
Obstet Gynecol 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Curated

National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Recent clinical studies

Etiology

Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A
Am J Med Genet A 2023 Aug;191(8):2015-2044. Epub 2023 Jul 1 doi: 10.1002/ajmg.a.63312. PMID: 37392087Free PMC Article
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040501. PMID: 33805390Free PMC Article
Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A
Genes (Basel) 2021 Mar 11;12(3) doi: 10.3390/genes12030398. PMID: 33799648Free PMC Article
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Oneda B, Rauch A
Best Pract Res Clin Obstet Gynaecol 2017 Jul;42:53-63. Epub 2017 Jan 23 doi: 10.1016/j.bpobgyn.2017.01.003. PMID: 28215395

Diagnosis

Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A
Am J Med Genet A 2023 Aug;191(8):2015-2044. Epub 2023 Jul 1 doi: 10.1002/ajmg.a.63312. PMID: 37392087Free PMC Article
Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article

Therapy

Nogami K, Shima M
Br J Haematol 2023 Jan;200(1):23-34. Epub 2022 Jul 23 doi: 10.1111/bjh.18379. PMID: 35869698
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L
N Engl J Med 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. PMID: 23215555Free PMC Article

Prognosis

Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Cheng L, Albers P, Berney DM, Feldman DR, Daugaard G, Gilligan T, Looijenga LHJ
Nat Rev Dis Primers 2018 Oct 5;4(1):29. doi: 10.1038/s41572-018-0029-0. PMID: 30291251
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Oneda B, Rauch A
Best Pract Res Clin Obstet Gynaecol 2017 Jul;42:53-63. Epub 2017 Jan 23 doi: 10.1016/j.bpobgyn.2017.01.003. PMID: 28215395
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112

Clinical prediction guides

Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Capkova Z, Capkova P, Srovnal J, Adamova K, Prochazka M, Hajduch M
Mol Genet Genomic Med 2021 Mar;9(3):e1592. Epub 2021 Jan 17 doi: 10.1002/mgg3.1592. PMID: 33455084Free PMC Article
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Gardner RJ
Clin Anat 2016 Jul;29(5):540-6. Epub 2016 Apr 4 doi: 10.1002/ca.22714. PMID: 26990310
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium
Genet Med 2016 Apr;18(4):341-9. Epub 2015 Jun 11 doi: 10.1038/gim.2015.78. PMID: 26066539Free PMC Article

Recent systematic reviews

Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Rodríguez-Grande EI, Buitrago-López A, Torres-Narváez MR, Serrano-Villar Y, Verdugo-Paiva F, Ávila C
Sci Rep 2022 Jul 29;12(1):13051. doi: 10.1038/s41598-022-16332-x. PMID: 35906275Free PMC Article
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

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    Clinical resources

    Practice guidelines

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

    Curated

    • NSGC, 2021
      National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

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