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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 sex 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

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management.
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939
Acute myeloid leukemia: 2019 update on risk-stratification and management.
Estey EH
Am J Hematol 2018 Oct;93(10):1267-1291. doi: 10.1002/ajh.25214. PMID: 30328165

Recent clinical studies

Diagnosis

Umbilical vein insertion into the inferior vena cava: an ominous sign of chromosomal abnormalities?
Weissmann-Brenner A, Zalel Y
J Ultrasound Med 2014 Dec;33(12):2207-10. doi: 10.7863/ultra.33.12.2207. PMID: 25425381

Prognosis

Umbilical vein insertion into the inferior vena cava: an ominous sign of chromosomal abnormalities?
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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