Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Paracentric Inversions Found in Prenatal Diagnosis

  • Lee, Shin Yeong (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Bom Yi (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Park, Ju Yeon (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Choi, Eun Young (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Yeon Woo (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Oh, Ah Rum (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Ryu, Hyun Mee (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Park, So Yeon (Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center)
  • Received : 2013.11.25
  • Accepted : 2013.12.24
  • Published : 2013.12.31
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Abstract

Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.

Keywords

References

  1. Inversions. In: Gardner RJM, Sutherland GR, Shaffer LG. editors, Chromosome abnormalities and Genetic counseling, 4th ed, New York: Oxford University Press 2012:161-82.
  2. Pettenati MJ, Rao PN, Phelan MC, Grass F, Rao KW, Cosper P, et al. Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet 1995;55:171-87. https://doi.org/10.1002/ajmg.1320550207
  3. Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Lefort G, Lespinasse J, et al. Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm. Mol Hum Reprod 2007;13:751-6. https://doi.org/10.1093/molehr/gam048
  4. Groupe de CytogeneticiensFrancais. Paracentric inversions in man. A French collaborative study. Ann Genet (Paris) 1986;29:169-76.
  5. Madan K, Seabright M, Lindenbaum RH, Bobrow M. Paracentric inversions in man. J Med Genet 1984;21:407-12. https://doi.org/10.1136/jmg.21.6.407
  6. Madan K. Paracentric inversions: a review. Hum Genet 1995;96:503-15.
  7. Kim JW, Park SY, Ryu HM, Lee DE, Lee BY, Kim SY, et al. Molecular and clinical characteristics of 26 cases with structural Y chromosome aberrations. Cytogenet Genome Res 2012;136:270-7. https://doi.org/10.1159/000338413
  8. Structural chromosome rearrangements. In: Shaffer LG, Schmid M, McGowan-Jordan J. Editors, An International System for Human Cytogenetic Nomenclature (2013), Basel: S Karger 2013:59-84.
  9. Speevak M, Hunter AG, Hughes H, Cox DM. A familial paracentric inv(1) (q42q44) resulting in a child with a del(1)(q42) karyotype. Ann Genet 1985;28:177-80.
  10. Hales HA, Peterson CM, Carey J, Hecht BK, Hecht F. Prenatal detection of de novo paracentric inversion 46,XX,inv(14)(q22q32.1) in a normal child: report and review of the literature. Am J Med Genet 1993;47:848-51. https://doi.org/10.1002/ajmg.1320470610
  11. Warburton D, Twersky S. Risk of phenotypic abnormalities in paracentric inversion carriers. Am J Med Genet 1997;69:219. https://doi.org/10.1002/(SICI)1096-8628(19970317)69:2<219::AID-AJMG20>3.0.CO;2-N
  12. Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, et al. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet 1994;55:21-6.
  13. Akita S, Kuratomi H, Abe K, Harada N, Mukae N, Niikawa N. EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3). Clin Dysmorphol 1993;2:62-7.
  14. Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 1979;3:155-74. https://doi.org/10.1002/ajmg.1320030207
  15. Felding I, Kristoffersson U, Sjostrom H, Noren O. Contribution to the18qsyndrome. A patient with del(18)(q22.3qter). Clin Genet 1987;31:206-10.
  16. Keppler-Noreuil KM, Carroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, et al. Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. Am J Med Genet 1998;76:372-8. https://doi.org/10.1002/(SICI)1096-8628(19980413)76:5<372::AID-AJMG2>3.0.CO;2-P
  17. An GH, Kim MY, Kim MH, Kim YY, Choi KH, Kwak DW, et al. A prenatal case of paracentric inversion of chromosome 18, inv(18)(q21.1q22). J Genet Med 2012;9:101-3. https://doi.org/10.5734/JGM.2012.9.2.101
  18. Neu RL, Brar HS, Koos BJ. Prenatal diagnosis of inv(X)(q12q28) in a male fetus. J Med Genet 1988;25:52-3. https://doi.org/10.1136/jmg.25.1.52
  19. Powell CM, Taggart RT, Drumheller TC, Wangsa D, Qian C, Nelson LM, et al. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet 1994;52:19-26. https://doi.org/10.1002/ajmg.1320520105
  20. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 1987;317:125-31. https://doi.org/10.1056/NEJM198707163170301
  21. Dar H, Tal J, Bar-el H, Halpern I, Sharf M. Paracentric inversion of Xq and ovarian dysfunction. Am J Med Genet 1988;29:167-70. https://doi.org/10.1002/ajmg.1320290122
  22. Warburton D, Twersky S. Risk of phenotypic abnormalities in paracentric inversion carriers. Am J Med Genet 1997;69:219. https://doi.org/10.1002/(SICI)1096-8628(19970317)69:2<219::AID-AJMG20>3.0.CO;2-N
  23. Sutherland GR, Callen DF, Gardner RJ. Paracentric inversions do not normally generate monocentric recombinant chromosomes. Am J Med Genet 1995;59:390-2. https://doi.org/10.1002/ajmg.1320590323
  24. Madan K, Menko FH. Intrachromosomal insertions: a case report and a review. Hum Genet 1992;89:1-9. https://doi.org/10.1007/BF00207032
  25. Madan K, Nieuwint AW. Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question. Am J Med Genet 2002;107:340-3. https://doi.org/10.1002/ajmg.10173