Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation

부계의 균형전좌에 의해 발생한 과잉 염색체 22 증후군 1례

  • Jun, Youn-Soo (Department of Pediatrics, Wonkwang University School of Medicine) ;
  • So, Cheol-Hwan (Department of Pediatrics, Wonkwang University School of Medicine) ;
  • Yu, Seung-Taek (Department of Pediatrics, Wonkwang University School of Medicine) ;
  • Park, Do-Sim (Department of Laboratory Medicine, Wonkwang University School of Medicine) ;
  • Cho, Eun-Hae (Green Cross Reference Lab) ;
  • Oh, Yeon-Kyun (Department of Pediatrics, Wonkwang University School of Medicine)
  • 전윤수 (원광대학교 의과대학 소아과학교실) ;
  • 소철환 (원광대학교 의과대학 소아과학교실) ;
  • 유승택 (원광대학교 의과대학 소아과학교실) ;
  • 박도심 (원광대학교 의과대학 진단검사의학교실) ;
  • 조은해 (녹십자) ;
  • 오연균 (원광대학교 의과대학 소아과학교실)
  • Published : 2010.05.31
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Abstract

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

저자들은 저긴장증과 다발성 선천성 기형을 보인 신생아에서 염색체 검사 및 FISH로 확인된, 부계의 균형적 전좌에 의한 Emanuel 증후군 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

Keywords

References

  1. Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P. "Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease. Eur J Pediatr 1986;145:229-32. https://doi.org/10.1007/BF00446075
  2. Lee SH, Cho HC, Shin SK, Lee JI, Choi WJ, Lee SA, et al. A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1). Korean J Obstet Gynecol 2002;45:1601-5.
  3. Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 1999;65:1595-607. https://doi.org/10.1086/302666
  4. Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, et al. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet 1999;64:747-58. https://doi.org/10.1086/302284
  5. Kessel E, Pfeiffer RA. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22) (q23;q12)mat. Remarks on the problem of trisomy 22. Hum Genet 1977;37:111-6. https://doi.org/10.1007/BF00293781
  6. Zackai EH, Emanuel BS. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 1980;7:507-21. https://doi.org/10.1002/ajmg.1320070412
  7. Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet 1980;56:21-51. https://doi.org/10.1007/BF00281567
  8. Kadotani T, Katano T, Yamaoka H, Murakami M, Nakamoto Y, Watanabe Y. A case of partial trisomy 22 without cat-eye stigmata. Proc Jpn Acad Ser B Phys Biol Sci 1978;54:217-21. https://doi.org/10.2183/pjab.54.217
  9. Lin AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH. Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clin Genet 1986;29:269-75.
  10. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, et al. Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet 1994;54:871-6.