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Pericentric inversion

MedGen UID:
90712
•Concept ID:
C0333706
•
Cell or Molecular Dysfunction
Synonym: Pericentric Inversion
SNOMED CT: Pericentric inversion (73826002)

Definition

A chromosome inversion involving a segment that includes the centromere. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPericentric inversion

Professional guidelines

PubMed

Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.
Zhang L, Ren M, Song G, Zhang Y, Liu X, Zhang X, Wang J
Mol Med Rep 2018 Feb;17(2):2811-2816. Epub 2017 Dec 6 doi: 10.3892/mmr.2017.8198. PMID: 29257243Free PMC Article
Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.
Ramos L, Daina G, Del Rey J, Ribas-Maynou J, Fernández-Encinas A, Martinez-Passarell O, Boada M, Benet J, Navarro J
Fertil Steril 2015 Sep;104(3):681-7.e2. Epub 2015 Jun 16 doi: 10.1016/j.fertnstert.2015.05.033. PMID: 26086421
Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.
Gürel SA
J Obstet Gynaecol Res 2015 Apr;41(4):628-30. Epub 2014 Dec 10 doi: 10.1111/jog.12603. PMID: 25492297

Recent clinical studies

Etiology

Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.
Zhang L, Ren M, Song G, Zhang Y, Liu X, Zhang X, Wang J
Mol Med Rep 2018 Feb;17(2):2811-2816. Epub 2017 Dec 6 doi: 10.3892/mmr.2017.8198. PMID: 29257243Free PMC Article
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Pericentric inversion 9--incidence and clinical significance.
Teo SH, Tan M, Knight L, Yeo SH, Ng I
Ann Acad Med Singap 1995 Mar;24(2):302-4. PMID: 7653975
Familial pericentric inversion inv(8)(p23q11).
Boyd H, Kaste J, Hovi E, Ritanen-Mohammed UM, Kääriäinen H, de la Chapelle A, Lehesjoki AE
J Med Genet 1994 Mar;31(3):201-5. doi: 10.1136/jmg.31.3.201. PMID: 8014967Free PMC Article

Diagnosis

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M
Am J Med Genet A 2020 Nov;182(11):2680-2684. Epub 2020 Aug 16 doi: 10.1002/ajmg.a.61804. PMID: 32803851
Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.
Zhang L, Ren M, Song G, Zhang Y, Liu X, Zhang X, Wang J
Mol Med Rep 2018 Feb;17(2):2811-2816. Epub 2017 Dec 6 doi: 10.3892/mmr.2017.8198. PMID: 29257243Free PMC Article
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Inv(10)(p11.2q21.2), a variant chromosome.
Collinson MN, Fisher AM, Walker J, Currie J, Williams L, Roberts P
Hum Genet 1997 Dec;101(2):175-80. doi: 10.1007/s004390050609. PMID: 9402964

Therapy

Clinical outcomes of Preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population.
Shao Y, Li J, Lu J, Li H, Zhu Y, Jiang W, Yan J
Reprod Biol Endocrinol 2020 Aug 5;18(1):79. doi: 10.1186/s12958-020-00635-7. PMID: 32758287Free PMC Article
Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years.
Lee SG, Park TS, Lim G, Lee KA, Song J, Choi JR
Ann Clin Lab Sci 2010 Summer;40(3):273-7. PMID: 20689141
Constitutional pericentric inversion of chromosome 9 and hematopoietic recovery after allogeneic stem cell transplantation.
Manola KN, Harhalakis N, Symeonidis A, Rigana H, Stavropoulou C, Karakasis D, Tiniakou M, Baltathakis I, Stamouli MI, Zoumbos N, Pantelias GE, Sambani C
Ann Hematol 2006 Sep;85(9):611-5. Epub 2006 Jun 7 doi: 10.1007/s00277-006-0146-9. PMID: 16758191
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.
Szamalek JM, Goidts V, Chuzhanova N, Hameister H, Cooper DN, Kehrer-Sawatzki H
Hum Genet 2005 Jul;117(2-3):168-76. Epub 2005 May 10 doi: 10.1007/s00439-005-1287-y. PMID: 15883840
Chromosome aberrations in a schizophrenia population.
Demirhan O, Taştemir D
Schizophr Res 2003 Dec 1;65(1):1-7. doi: 10.1016/s0920-9964(02)00504-2. PMID: 14623367

Prognosis

Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A, Laskoski LV, Luiz AF, Silveira MAD, d'Arce LPG
BMC Med Genomics 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2. PMID: 37957608Free PMC Article
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M
Am J Med Genet A 2020 Nov;182(11):2680-2684. Epub 2020 Aug 16 doi: 10.1002/ajmg.a.61804. PMID: 32803851
Effects of chromosome 9 inversion on IVF/ICSI: A 7-year retrospective cohort study.
Liang S, Yang J, Wu H, Teng X, Duan T
Mol Genet Genomic Med 2019 Sep;7(9):e856. Epub 2019 Jul 28 doi: 10.1002/mgg3.856. PMID: 31353845Free PMC Article
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Pericentric inversion 9--incidence and clinical significance.
Teo SH, Tan M, Knight L, Yeo SH, Ng I
Ann Acad Med Singap 1995 Mar;24(2):302-4. PMID: 7653975

Clinical prediction guides

Detection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China.
Yuan J, Jin L, Wang M, Wei S, Zhu G, Xu B
Hum Reprod 2023 Nov 20;38(Supplement_2):ii34-ii46. doi: 10.1093/humrep/dead076. PMID: 37982417
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A, Laskoski LV, Luiz AF, Silveira MAD, d'Arce LPG
BMC Med Genomics 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2. PMID: 37957608Free PMC Article
Polymorphic Rearrangements of Human Chromosome 9 and Male Infertility: New Evidence and Impact on Spermatogenesis.
Mottola F, Santonastaso M, Ronga V, Finelli R, Rocco L
Biomolecules 2023 Apr 23;13(5) doi: 10.3390/biom13050729. PMID: 37238599Free PMC Article
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling.
Demirhan O, Pazarbasi A, Suleymanova-Karahan D, Tanriverdi N, Kilinc Y
Saudi Med J 2008 Jul;29(7):946-51. PMID: 18626518

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
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903

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