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A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

김지은|김경은|한진영|유재호|안현숙|김묘징|Lisa G. Shaffer|우광숙
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2010.02|Annals of Laboratory Medicine|제30권 제1호|pp. 84-88

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참고문헌

키워드

HumanChromosomesComparative Genomic HybridizationPair 6Chromosome Deletion
주제분류병리학

초록

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature. (Korean J Lab Med 2010;30:84-8)

Abstract

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature. (Korean J Lab Med 2010;30:84-8)

참고문헌 (25)

  1. Chae KY, "Deletion of the long arm of chromosome 6 associated with arachnoid cyst and brain atropy", J Korean Child Neurol Soc, 7, pp.250~256 (1999)
  2. Hopkin RJ, "New insights into the phenotypes of 6q deletions", Am J Med Genet, 70, pp.377~386 (1997)
  3. Mikkelsen M, "Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members", Hum Genet, 18, pp.195~202 (1973)
  4. Klein OD, "Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH", Clin Genet, 71, pp.260~266 (2007)
  5. Myers SM, "Proximal 6q interstitial deletion without severe mental retardation", Genet Couns, 16, pp.269~276 (2005)
  6. McNeal RM, "Congenital anomalies including the VATER association in a patient with del(6)q deletion", J Pedi atr, 91, pp.957~960 (1977)
  7. Young RS, "Deletions of the long arm of chromosome 6: two new cases and review of the literature", Am J Med Genet, 20, pp.21~29 (1985)
  8. Yamamoto Y, "Deletion of proximal 6q: a clinical report and review of the literature", Am J Med Genet, 25, pp.467~471 (1986)
  9. Slater HR, "Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities", J Med Genet, 25, pp.210~211 (1988)
  10. Lonardo F, "A malformed girl with a de novo proximal 6q deletion", Ann Genet, 31, pp.57~59 (1988)
  11. Turleau C, "6q1 monosomy: a distinctive syndrome", Clin Genet, 34, pp.38~42 (1988)
  12. Valtat C, "Monosomy 6q: report on four new cases", Clin Genet, 41, pp.159~166 (1992)
  13. Gershoni-Baruch R, "Interstitial deletion (6)q13q15", Am J Med Genet, 62, pp.345~347 (1996)
  14. Romie SS, "Monosomy 6q1: syndrome delineation", Am J Med Genet, 62, pp.105~108 (1996)
  15. Kumar R, "Proximal interstitial 6q deletion: a recognizable syndrome", Am J Med Genet, 71, pp.353~356 (1997)
  16. Warman ML, "Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)", Genomics, 17, pp.694~698 (1993)
  17. Zherebtsov MM, "Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature", Clin Dysmorphol, 16, pp.135~140 (2007)
  18. Gershoni-Baruch R, "Interstitial deletion (6)q13q15", Am J Med Genet, 62, pp.345~347 (1996)
  19. Duran-Gonzalez J, "A de novo interstitial 6q deletion in a boy with a split hand malformation", J Appl Genet, 48, pp.405~407 (2007)
  20. Yu M, "Prenatal detection of deletion 6q13q15 in a complex karyotype", Prenat Diagn, 25, pp.1084~1087 (2005)
  21. Schuster M, "Severe sensory hearing loss in del(6q)-syndrome", Int J Pediatr Otorhinolaryngol, 67, pp.1263~1266 (2003)
  22. Le Caignec C, "Interstitial 6q deletion: clinical and array CGH characterisation of a new patient", Eur J Med Genet, 48, pp.339~345 (2005)
  23. Hansson K, "Interstitial deletion of 6q without phenotypic effect", Am J Med Genet A, 143A, pp.1354~1357 (2007)
  24. Poliakov A, "Diverse roles of eph receptors and ephrins in the regulation of cell migration and tissue assembly", Dev Cell, 7, pp.465~480 (2004)
  25. Posthumus M, "The association between the COL12A1 gene and anterior cruciate ligament ruptures", Br J Sports Med (2009)

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