Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

  • Kang, Jeong-Eun (Department of Laboratory Medicine, Pusan National University School of Medicine) ;
  • Park, Mi-Young (Department of Laboratory Medicine, Pusan National University School of Medicine) ;
  • Cheon, Chong-Kun (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Lee, Hyoung-Doo (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Hwang, Sang-Hyun (Department of Laboratory Medicine, Center for Clinical Oncology, Research Institute and Hospital, National Cancer Center) ;
  • Yi, Jong-Youn (Department of Laboratory Medicine, Pusan National University School of Medicine)
  • Published : 2012.01.01
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Abstract

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).

Keywords

References

  1. Shaffer LG, Slovak ML, et al. eds. ISCN 2009 : An international System for Human Cytogenetic Nomenclature (2009). Basel: Karger, 2009.
  2. Lucas J, Le Mee F, Le Marec B, Pluquailec K, Journel H, Picard F. Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger. Ann Genet 1985;28:167-171.
  3. Bown N, Cross I, Davison EV, Burn J. Partial trisomy 20p resulting from a recombination of a familial pericentric inversion. Hum Genet 1986;74: 417-419. https://doi.org/10.1007/BF00280496
  4. Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, et al. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. Am J Med Genet 2010;152A:373-382. https://doi.org/10.1002/ajmg.a.33219
  5. Molina-Gomes D, Nebout V, Daikha-Dahmane F, Vialard F, Ville Y, Selva J. Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling. Prenat Diagn 2006;26:239-241. https://doi.org/10.1002/pd.1389
  6. Oppenheimer S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. Am J Med Genet 2000;95:316-319. https://doi.org/10.1002/1096-8628(20001211)95:4<316::AID-AJMG4>3.0.CO;2-Z
  7. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Porto GD. 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 1992; 41:285-289.
  8. Sidwell RU, Pinson MP, Gibbons B, Byatt SA, Svennevik EC, Hastings RJ, et al. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. J Med Genet 2000;37:454-458. https://doi.org/10.1136/jmg.37.6.454
  9. Schinzel A. Trisomy 20pter to q11 in a malformed boy from a t(13;20) (p11;q11) translocation-carrier mother. Hum Genet 1980;53:169-172.
  10. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL, Franche U. Partial trisomy 20p derived from a t(18;20) translocation. Hum Genet 1976;34: 155-162. https://doi.org/10.1007/BF00278884
  11. Balestrazzi P, Virdis R, Frassi C, Negri V, Rigoli E, Bernasconi S. "De Novo" trisomy 20p with macroorchidism in a prepuberal boy. Ann Genet 1984;27:58-59.

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