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A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

  • Choi, Young-Jin (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Shin, Eunsim (Genome Research Center, Neodin Medical Institute) ;
  • Jo, Tae Sik (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Moon, Jin-Hwa (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Lee, Se-Min (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Kim, Joo-Hwa (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Oh, Jae-Won (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Kim, Chang-Ryul (Department of Pediatrics, Hanyang University College of Medicine) ;
  • Seol, In Joon (Department of Pediatrics, Hanyang University College of Medicine)
  • 투고 : 2014.02.27
  • 심사 : 2014.06.25
  • 발행 : 2016.02.15

초록

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

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참고문헌

  1. Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999;85:455-62. https://doi.org/10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z
  2. Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A 2007;143A:1858-67. https://doi.org/10.1002/ajmg.a.31850
  3. Linnankivi T, Tienari P, Somer M, Kahkonen M, Lonnqvist T, Valanne L, et al. 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals. Am J Med Genet A 2006;140:331-9.
  4. Balasubramanian M, Barber JC, Collinson MN, Huang S, Maloney VK, Bunyan D, et al. Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. Am J Med Genet A 2009;149A:793-7. https://doi.org/10.1002/ajmg.a.32463
  5. Li MM, Andersson HC. Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. J Pediatr 2009;155:311-7. https://doi.org/10.1016/j.jpeds.2009.04.001
  6. Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. Neurologic manifestations in 18q- syndrome. Am J Med Genet 1990;37:128-32. https://doi.org/10.1002/ajmg.1320370130
  7. Giustina A, Schettino M, Bodini C, Doga M, Licini M, Giustina G. Effect of galanin on the growth hormone response to growth hormone-releasing hormone in acromegaly. Metabolism 1992;41:1291-4. https://doi.org/10.1016/0026-0495(92)90098-U
  8. Gfatter R, Braun F, Schnedl W. The common features of patients with partial trisomy of the long arm of chromosome 1. Clin Genet 1998;54:161-3.
  9. Duba HC, Erdel M, Loffler J, Bereuther L, Fischer H, Utermann B, et al. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. J Med Genet 1997;34:309-13. https://doi.org/10.1136/jmg.34.4.309
  10. Patel C, Hardy G, Cox P, Bowdin S, McKeown C, Russell AB. Mosaic trisomy 1q: The longest surviving case. Am J Med Genet A 2009;149A:1795-800. https://doi.org/10.1002/ajmg.a.32959