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Paracentric Inversions Found in Prenatal Diagnosis 원문보기

Journal of genetic medicine, v.10 no.2, 2013년, pp.104 - 108  

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)

Abstract ▼ AI-Helper 아이콘AI-Helper

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 betwe...

주제어

#Paracentric inversion   #Prenatal diagnosis   #Amniocentesis   #Chorionic villus sampling  

AI 본문요약
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제안 방법

  • In this study, we characterized paracentric inversions identified in 10 cases observed in prenatal diagnosis at our center during a five-year period.
  • 3) in a little girl and her father. She had bilateral cleft lip and palate, limited extension of the elbow joints, bilateral ectrodactyly of the hands and feet, and various other abnormalities. Her father exhibited a normal phenotype.

대상 데이터

  • This study was approved by the institutional ethics committee of Cheil General Hospital and included 10 cases with paracentric inversion chromosomes that were referred to our clinic for prenatal diagnosis between January 2009 and June 2013. Fetal karyotyping was performed via amniocentesis and chorionic villus sampling (CVS).
본문요약 정보가 도움이 되었나요?

참고문헌 (25)

  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. 

    상세보기 crossref

  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. 

    상세보기 crossref

  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. 

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  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. 

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  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. 

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  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. 

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  11. Warburton D, Twersky S. Risk of phenotypic abnormalities in paracentric inversion carriers. Am J Med Genet 1997;69:219. 

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  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. 

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  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. 

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  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. 

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  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. 

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  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. 

    원문보기 상세보기 crossref

  18. Neu RL, Brar HS, Koos BJ. Prenatal diagnosis of inv(X)(q12q28) in a male fetus. J Med Genet 1988;25:52-3. 

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  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. 

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  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. 

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  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. 

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  22. Warburton D, Twersky S. Risk of phenotypic abnormalities in paracentric inversion carriers. Am J Med Genet 1997;69:219. 

    상세보기 crossref

  23. Sutherland GR, Callen DF, Gardner RJ. Paracentric inversions do not normally generate monocentric recombinant chromosomes. Am J Med Genet 1995;59:390-2. 

    상세보기 crossref

  24. Madan K, Menko FH. Intrachromosomal insertions: a case report and a review. Hum Genet 1992;89:1-9. 

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  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. 

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