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Chromosome inversion disorder

MedGen UID:
7145
•Concept ID:
C0021943
•
Cell or Molecular Dysfunction
Synonym: Chromosome inversion
SNOMED CT: Genetic inversion (60844005); Chromosome inversion (72617005)
 
Monarch Initiative: MONDO:0043678

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

A survey of current methods to detect and genotype inversions.
Hanlon VCT, Lansdorp PM, Guryev V
Hum Mutat 2022 Nov;43(11):1576-1589. Epub 2022 Sep 19 doi: 10.1002/humu.24458. PMID: 36047337
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
Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.
Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322

Recent clinical studies

Therapy

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
Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.
Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Core-binding factor acute myeloid leukemia: Heterogeneity, monitoring, and therapy.
Solh M, Yohe S, Weisdorf D, Ustun C
Am J Hematol 2014 Dec;89(12):1121-31. Epub 2014 Aug 27 doi: 10.1002/ajh.23821. PMID: 25088818
Haemophilia.
Cahill MR, Colvin BT
Postgrad Med J 1997 Apr;73(858):201-6. doi: 10.1136/pgmj.73.858.201. PMID: 9156121Free PMC Article

Prognosis

Inversions on human chromosomes.
Kosuthova K, Solc R
Am J Med Genet A 2023 Mar;191(3):672-683. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63063. PMID: 36495134
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
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Haemophilia.
Cahill MR, Colvin BT
Postgrad Med J 1997 Apr;73(858):201-6. doi: 10.1136/pgmj.73.858.201. PMID: 9156121Free PMC Article

Clinical prediction guides

Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism.
Al-Zain AM, Nester MR, Ahmed I, Symington LS
Nat Commun 2023 Nov 2;14(1):7020. doi: 10.1038/s41467-023-42640-5. PMID: 37919272Free PMC Article
Chromosomal inversion polymorphisms shape human brain morphology.
Wang H, Makowski C, Zhang Y, Qi A, Kaufmann T, Smeland OB, Fiecas M, Yang J, Visscher PM, Chen CH
Cell Rep 2023 Aug 29;42(8):112896. Epub 2023 Jul 27 doi: 10.1016/j.celrep.2023.112896. PMID: 37505983Free PMC Article
Inversions on human chromosomes.
Kosuthova K, Solc R
Am J Med Genet A 2023 Mar;191(3):672-683. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63063. PMID: 36495134
What is behind "centromere repositioning"?
Schubert I
Chromosoma 2018 Jun;127(2):229-234. Epub 2018 Apr 28 doi: 10.1007/s00412-018-0672-y. PMID: 29705818
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378

Recent systematic reviews

Chromosome 9 Inversion: Pathogenic or Benign? A Comprehensive Systematic Review of all Clinical Reports.
Mohsen-Pour N, Talebi T, Naderi N, Moghadam MH, Maleki M, Kalayinia S
Curr Mol Med 2022;22(5):385-400. doi: 10.2174/1566524021666210806161128. PMID: 34365947
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754

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