Martin AO, Simpson JL, Deddish RB, Elias S. Clinical implications of chromosomal inversions. A pericentric inversion in No. 18 segregating in a family ascertained through an abnormal proband. Am J Perinatol. 1983;1:81–8.

Article  CAS  PubMed  Google Scholar 

Sujansky E, Smith AC, Peakman DC, McConnell TS, Baca P, Robinson A. Familial pericentric inversion of chromosome 8. Am J Med Genet. 1981;10:229–35.

Article  CAS  PubMed  Google Scholar 

Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007;131:1235–47.

Article  CAS  PubMed  Google Scholar 

Weckselblatt B, Rudd MK. Human structural variation: mechanisms of chromosome rearrangements. Trends Genet. 2015;31:587–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Samonte RV, Eichler EE. Segmental duplications and the evolution of the primate genome. Nat Rev Genet. 2002;3:65–72.

Article  CAS  PubMed  Google Scholar 

Abdullaev E. Dynamical aspects of the evolution of segmental duplications in the human genome. Berlin: Freie Universität Berlin; 2022. p. 3–33.

Kojima KK. LINEs contribute to the origins of middle bodies of SINEs besides 3’ tails. Genome Biol Evol. 2018;10:370–79.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH. Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies. Taiwan J Obstet Gynecol. 2019;58:318–23.

Article  PubMed  Google Scholar 

Yu J, Xiaolu C, Jiayan C, Meijiao C, Jian Z, Yunsheng G, et al. Prenatal diagnosis and genetic counseling for two pedigrees with pericentric inversion of chromosome 18. Chin J Perinat Med. 2019;22:127–33.

Google Scholar 

Shuang C, Dejun L, Chunzhu J, Linlin L. Prenatal diagnosis of a case of 46, XY, rec(18)dup(18q)inv(18)(p11q12). Chin J Med Genet. 2019;36:681–81.

Google Scholar 

Zamani AG, Acar A, Durakbasi-Dursun G, Yildirim MS, Ceylaner S, Tuncez E. Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion. Am J Med Genet A. 2014;164a:1239–44.

Article  PubMed  Google Scholar 

Sahin FI, Ozer O, Tarim E, Yilmaz Z. Detection of identical unbalanced karyotype in two consequent fetuses due to a maternal pericentric inversion of chromosome 18. J Obstet Gynaecol. 2012;32:698–700.

Article  CAS  PubMed  Google Scholar 

Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, et al. Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur J Hum Genet. 2011;19:555–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet. 2004;47:297–303.

Article  CAS  PubMed  Google Scholar 

Roberts D, Sweeney E, Walkinshaw S. Congenital cystic adenomatoid malformation of the lung coexisting with recombinant chromosome 18. A case report. Fetal Diagn Ther. 2001;16:65–7.

Article  CAS  PubMed  Google Scholar 

Leonard NJ, Tomkins DJ, Demianczuk N. Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat. Prenat Diagn. 2000;20:947–9.

Article  CAS  PubMed  Google Scholar 

Mohsen-Pour N, Talebi T, Naderi N, Moghadam MH, Maleki M, Kalayinia S. Chromosome 9 Inversion: Pathogenic or Benign? A comprehensive systematic review of all clinical reports. Curr Mol Med. 2022;22:385–400.

Stapley J, Feulner PGD, Johnston SE, Santure AW, Smadja CM. Variation in recombination frequency and distribution across eukaryotes: patterns and processes. Philos Trans R Soc Lond B Biol Sci. 2017;372:20160455.

Liehr T, Weise A, Mrasek K, Ziegler M, Padutsch N, Wilhelm K, et al. Recombinant chromosomes resulting from parental pericentric inversions-two new cases and a review of the literature. Front Genet. 2019;10:1165.

Article  PubMed  PubMed Central  Google Scholar 

Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. Recent segmental duplications in the human genome. Science. 2002;297:1003–7.

Article  CAS  PubMed  Google Scholar 

Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, et al. DNA sequence and analysis of human chromosome 18. Nature. 2005;437:551–5.

Article  CAS  PubMed  Google Scholar 

Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, et al. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015;43:2188–98.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rossetti LC, Goodeve A, Larripa IB, De Brasi CD. Homeologous recombination between AluSx-sequences as a cause of hemophilia. Hum Mutat. 2004;24:440.

Article  PubMed  Google Scholar 

Weckselblatt B, Hermetz KE, Rudd MK. Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis. Genome Res. 2015;25:937–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, et al. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015;24:4061–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016;17:224–38.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates V, Yamamura Y. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. J Med Genet. 1976;13:366–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril. 2006;85:661–6.

Article  CAS  PubMed  Google Scholar 

Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod. 2007;22:136–41.

Article  CAS  PubMed  Google Scholar 

Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). Jinrui Idengaku Zasshi. 1991;36:257–65.

Article  CAS  PubMed  Google Scholar 

Gardner RM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. USA: OUP; 2011.

Book  Google Scholar 

Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008;3:4.

Article  PubMed  PubMed Central  Google Scholar 

Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006;140:1164–71.

Article  PubMed  Google Scholar 

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, et al. Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). Genet Couns. 2010;21:91–7.

CAS  PubMed  Google Scholar 

Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae MR, et al. Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet. 2005;13:52–8.

Article  CAS  PubMed  Google Scholar 

Poterico JA, Vásquez F, Chávez-Pastor M, Trubnykova M, Chavesta F, Chirinos J, et al. A peruvian child with 18p-/18q+ syndrome and persistent microscopic hematuria. J Pediatr Genet. 2017;6:258–66.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liehr T, Kosayakova N, Schröder J, Ziegler M, Kreskowski K, Pohle B, et al. Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements. Balk J Med Genet. 2011;14:13–6.

CAS  Google Scholar 

Durkin SG, Glover TW. Chromosome fragile sites. Annu Rev Genet. 2007;41:169–92.

Article  CAS  PubMed  Google Scholar