Display options
Cite
Choi YJ, Shin E, Jo TS, et al. A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism. Korean J Pediatr. 2016;59(2):91-5doi: 10.3345/kjp.2016.59.2.91.
Choi, Y. J., Shin, E., Jo, T. S., Moon, J. H., Lee, S. M., Kim, J. H., Oh, J. W., Kim, C. R., & Seol, I. J. (2016). A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism. Korean journal of pediatrics, 59(2), 91-5. https://doi.org/10.3345/kjp.2016.59.2.91
Choi, Young-Jin, et al. "A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism." Korean journal of pediatrics vol. 59,2 (2016): 91-5. doi: https://doi.org/10.3345/kjp.2016.59.2.91
Choi YJ, Shin E, Jo TS, Moon JH, Lee SM, Kim JH, Oh JW, Kim CR, Seol IJ. A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism. Korean J Pediatr. 2016 Feb;59(2):91-5. doi: 10.3345/kjp.2016.59.2.91. Epub 2016 Feb 29. PMID: 26958068; PMCID: PMC4781737.
Copy Download .nbib Format: NLM
Share it on

Korean J Pediatr. 2016 Feb;59(2):91-5. doi: 10.3345/kjp.2016.59.2.91. Epub 2016 Feb 29.

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

Korean journal of pediatrics

Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol

Affiliations

  1. Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea.
  2. Genome Research Center, Neodin Medical Institute, Seoul, Korea.

PMID: 26958068 PMCID: PMC4781737 DOI: 10.3345/kjp.2016.59.2.91

Abstract

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.

Keywords: 18q deletion; 1q duplication; Array comparative genomic hybridization; Developmental delay; Dysmorphism

References

  1. Am J Med Genet A. 2006 Feb 15;140(4):331-9 - PubMed
  2. Am J Med Genet. 1990 Sep;37(1):128-32 - PubMed
  3. Am J Med Genet A. 2009 Aug;149A(8):1795-800 - PubMed
  4. Am J Med Genet A. 2007 Aug 15;143A(16):1858-67 - PubMed
  5. Clin Genet. 1998 Aug;54(2):161-3 - PubMed
  6. Metabolism. 1992 Dec;41(12):1291-4 - PubMed
  7. Am J Med Genet. 1999 Aug 27;85(5):455-62 - PubMed
  8. Am J Med Genet A. 2009 Feb 15;149A(4):793-7 - PubMed
  9. J Med Genet. 1997 Apr;34(4):309-13 - PubMed
  10. J Pediatr. 2009 Sep;155(3):311-7 - PubMed

Publication Types