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Karyotype evaluation abnormal

MedGen UID:
99200
Concept ID:
C0476431
Finding
Synonyms: Abnormal Karyotype; Abnormal Karyotypes; Karyotype, Abnormal; Karyotypes, Abnormal
SNOMED CT: Karyotype evaluation abnormal (442124003)

Definition

Any abnormality in the number, length, centromere position, banding pattern or differences between the chromosomes that is not representative of a normal set of chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKaryotype evaluation abnormal

Professional guidelines

PubMed

Tefferi A, Barbui T
Am J Hematol 2023 Sep;98(9):1465-1487. Epub 2023 Jun 26 doi: 10.1002/ajh.27002. PMID: 37357958
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
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

Recent clinical studies

Diagnosis

Weissmann-Brenner A, Zalel Y
J Ultrasound Med 2014 Dec;33(12):2207-10. doi: 10.7863/ultra.33.12.2207. PMID: 25425381

Prognosis

Weissmann-Brenner A, Zalel Y
J Ultrasound Med 2014 Dec;33(12):2207-10. doi: 10.7863/ultra.33.12.2207. PMID: 25425381

Supplemental Content

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    Practice guidelines

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