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Genetic inversion

MedGen UID:
7145
•Concept ID:
C0021943
•
Cell or Molecular Dysfunction
Synonyms: Chromosomal Inversion; Chromosomal Inversions; Chromosome Inversion; Chromosome Inversions; Inversion, Chromosomal; Inversion, Chromosome; Inversions, Chromosomal; Inversions, Chromosome
SNOMED CT: Genetic inversion (60844005); Chromosome inversion (72617005)

Definition

A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. [from NCI]

Professional guidelines

PubMed

Core binding factor acute myelogenous leukemia-2021 treatment algorithm.
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1.
Marsh S, Hanson B, Wood MJA, Varela MA, Roberts TC
Mol Ther 2020 Dec 2;28(12):2527-2539. Epub 2020 Oct 14 doi: 10.1016/j.ymthe.2020.10.005. PMID: 33171139Free PMC Article
Diabetes insipidus--diagnosis and management.
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947

Recent clinical studies

Clinical prediction guides

Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice.
Huda F, Fan Y, Suzuki M, Konno A, Matsuzaki Y, Takahashi N, Chan JK, Hirai H
PLoS One 2016;11(11):e0164202. Epub 2016 Nov 1 doi: 10.1371/journal.pone.0164202. PMID: 27802273Free PMC Article

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