U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
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
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

Table of contents

    Clinical resources

    Practice guidelines

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

    Consumer resources

    Reviews

    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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...