Obstetrics & gynecology science

Korean Society of Obstetrics and Gynecology (대한산부인과학회)
권호 표지

A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1)

t(11;22)(q25;q13.1) 균형전좌 부계에서 발생한 Partial Trisomy 22 1예

Lee, Sang-Hee;Cho, Hyun-Chul;Shin, Su-Kyong;Lee, Jae-Ik;Choi, Won-Jun;Lee, Soon-Ae;Lee, Jong-Hak;Paik, Won-Young
이상희;조현철;신수경;이재익;최원준;이순애;이종학;백원영

  • Published : 20020900
⟨ Previous Next ⟩

Abstract

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.

Trisomy 22는 임신 말기까지 생존 출생하는 경우가 매우 드문 염색체 이상으로 거의 대부분의 경우에서 모계측이 균형 전좌 t(11;22)임이 보고되어 왔다. 부계의 균형 전좌에 의한 trisomy 22의 발생은 매우 드물어서 현재까지 보고된 85예 중 3예 정도로 그치고 있다. 저자들은 다발성 기형을 지닌 신생아에서 염색체 이상, 47,XX+22,del(22)(q13.1qter)을 확인하였고 부모 염색체 검사 및 fluorescence in situ hybridization (FISH)을 통하여 부계의 균형 전좌 t(11;22)(q25;q13.1)를 확인함으로써 신생아의 염색체 이상은 부계 원인으로 발생한 partial trisomy 22임 문헌 고찰과 함께 증례 보고하는 바이다.

Keywords

References

  1. Lohmann L, Chelloug N, Rosales B, Guerin C, Lyonnet S, Jonveaus P, et al. Dicentric maker derived from chromosone22 associated with mild clinical signs: a case report. prenat Diagn 2000; 20: 156-8. https://doi.org/10.1002/(SICI)1097-0223(200002)20:2<156::AID-PD758>3.0.CO;2-J
  2. Zaragozn MV, Millie E, Redline RW, Hassold T. Studies of nondisjunction in trisomies 2, 7, 15, and 22: dose the parental origin of trisomy influence placental morphology? J Med Genet 1998; 35: 924-31.
  3. Estop AM, Cieply KM, Munne S, Feingold E. Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet 1999; 104(5): 412-7.
  4. Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P. 'Partial trisomy 22' due to a paternal 11;22 translocation associated with Hirschsprung disease. Eur J Pediatr 1986; 145: 229-32. https://doi.org/10.1007/BF00446075
  5. Biederman BM, Lin CC, Lowry RB, Somerville R, Tertiary trisomy(22q11q),47,+der(22),t(11;22). Hum Genet 1980; 53(2): 173-7.
  6. Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(l1;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 1996; 33(11): 952-6.
  7. Petkovic I, de Capoa A, Giancotti P, Barisic I. Unusual segretation of t(11;22) resulting from crossing-over followed by 3:1 segregation at meiosis I. Clin Genet. 1996; 50(6): 515-9.
  8. Mirza G, Imaizumi K, Ragoussis J. Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22. J Med Genet; 37(9): E22.
  9. lselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, et al. The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet. 1983; 64(4): 343-55. https://doi.org/10.1007/BF00292366
  10. Sherman SL,Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, et aI. Trisomy 21: association between reduced recombination and nondisjuncdon. Am J Hum Genet. 1991; 49(3): 608-20.
  11. Armstrong SJ, Goldman AS, Speed RM, Hulten MA. Meiotic studies of a human male carrier of the common translocation, 1(11;22), suggests postzygotic selection rather than preferectial 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation. Am J Hum Genet 2000; 67(3): 601-9.
  12. Sasabe Y, Katayama KP, Nishimura T, Takahashi A, Asakura H, Winchester-Peden K, et al. Preimplantation Diagnosis by Fluorescence In Situ Hybridization Using 13-, 16-, 18-,21-,22-, X-,and Y-Chromosome Probes. J Assist Reprod Genet 1999; 16(2): 92-6. https://doi.org/10.1023/A:1022520907332
  13. Sanliago M, Mireia S, Tomas E, Jingly F, Luca G. Outcome of preimplantation genetic diagnoois of translocations. Fertil Steril 2000; 73(6): 1209-18. https://doi.org/10.1016/S0015-0282(00)00495-7