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Abnormal chromosome morphology

MedGen UID:
1617041
•Concept ID:
C4531140
•
Anatomical Abnormality
HPO: HP:0031411

Definition

Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal chromosome morphology

Professional guidelines

PubMed

PGDIS position statement on the transfer of mosaic embryos 2021.
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, Kahraman S, Grifo J, Katz-Jaffe M, Rubio C, Viotti M, Forman E, Xu K, Gordon T, Madjunkova S, Qiao J, Chen ZJ, Harton G, Gianaroli L, Simon C, Scott R, Simpson JL, Kuliev A
Reprod Biomed Online 2022 Jul;45(1):19-25. Epub 2022 Mar 20 doi: 10.1016/j.rbmo.2022.03.013. PMID: 35523707
New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis.
Reiter A, George TI, Gotlib J
Blood 2020 Apr 16;135(16):1365-1376. doi: 10.1182/blood.2019000932. PMID: 32106312
Chronic lymphocytic leukemia: 2020 update on diagnosis, risk stratification and treatment.
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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