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t(9;21)(q13;21) 균형전좌 아버지로부터 출생한 9번 염색체 단완 및장완의 부분세염색체증후군

A Case of Partial Trisomy 9pter q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)

김경은|한진영|권은영|김중표|우광숙
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2008.04|Annals of Laboratory Medicine|제28권 제2호|pp. 155-159

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초록

Abstract

Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral fissures. The degree of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosomal material. If the trisomic segments include the long arm of chromosome 9, clinical findings may not fit into the trisomy 9p but rather resemble trisomy 9 mosaic syndrome and are associated with muscular and cardiac anomalies. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis. Cases with trisomy 9p, especially involving proximal 9q, are very rare in Korea. The patient was a 1,920 g male infant born at 36 weeks 3 days of gestation to a 27-yr-old mother and 32-yr-old father after Cesarian section. The patient showed specific craniofacial anomalies, cardiac defects, and hand anomalies. Routine cytogenetic analysis, performed on peripheral blood using GTG banding, showed 46,XY,+der(9)t (9;21)(q13;q21),-21pat. Furthermore, FISH (Vysis Inc., USA) analysis with whole chromosome painting probes confirmed the derivative chromosome 9. (Korean J Lab Med 2008;28:155-9)

참고문헌 (23)

  1. Edwards JH, "Structural heterozygosis in man: analysis of two families", Ann Hum Genet, 26, pp.163~178 (1962)
  2. Rethore MO, "4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity", Ann Genet, 13, pp.217~232 (1970)
  3. Fujimoto A, "Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome", Am J Med Genet, 77, pp.268~271 (1998)
  4. Haddad BR, "Molecular cytogenetic characterisation of the first familial case of partial 9p duplication", J Med Genet, 33, pp.1045~1047 (1996)
  5. Young RS, "The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes", Hum Genet, 62, pp.31~39 (1982)
  6. Centerwall WR, "The trisomy 9p syndrome", Pediatrics, 56, pp.748~755 (1975)
  7. Jones KL, "Smith’s recognizable patterns of human malformation", pp.50~53 (1997), WB Saunders
  8. Yoon SW, "The trisomy 9p Syndrome", J Korean Child Neurol Soc, 2, pp.131~135 (1995)
  9. Hwang MJ, "A case of duplication 9p Syndrome", J Korean Neonatol, 5, pp.193~197 (1998)
  10. Kim MK, "A case of partial trisomy 9 by balanced maternal translocation", J Korean Pediatr Soc, 43, pp.700~703 (2000)
  11. Lee MG, "A case of duplication 9p syndrome (Partial trisomy 9p)", J Korean Pediatr Soc, 45, pp.1155~1159 (2002)
  12. 나형준, "3-Ketothiolase 결핍을 동반한 Partial Trisomy 9p 증후군 1례", 대한소아신경 학회지, 14(2), pp.375~379 (2006), 대한소아신경학회
  13. Wooldridge J, "Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature", Am J Med Genet, 56, pp.258~264 (1995)
  14. Hacihanefioglu S, "Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature", Genet Couns, 13, pp.41~48 (2002)
  15. Littooij AS, "Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up", Am J Med Genet, 109, pp.125~132 (2002)
  16. Angle B, "Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes", Am J Med Genet, 84, pp.132~136 (1999)
  17. Guanciali Franchi P, "FISH analysis in detecting 9p duplication", Am J Med Genet, 90, pp.35~37 (2000)
  18. Heller A, "Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review", J Med Genet, 37, pp.529~532 (2000)
  19. Piram A, "Newborn with malformations and a combined duplication of 9pterq22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation", Am J Med Genet A, 120, pp.247~252 (2003)
  20. Temtamy SA, "Phenotypic and cytogenetic spectrum of 9p trisomy", Genet Couns, (18), pp.29~48 (2007)
  21. Chettouh Z, "Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region", Am J Hum Genet, 57, pp.62~71 (1995)
  22. Riegel M, "Unbalanced 18q", 21q translocation in a patient previously reported as monosomy 21, 2005, pp.48, 167~174
  23. Vanderstichele S, "Prenatal diagnosis of partial trisomy 9p", J Gynecol Obstet Biol Reprod, 26, pp.630~632 (1997)

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