Display options
Cite
Otake K, Uchida K, Inoue M, et al. Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. Pediatr Surg Int. 2009;25(9):827-31doi: 10.1007/s00383-009-2421-z.
Otake, K., Uchida, K., Inoue, M., Koike, Y., Matsushita, K., Miki, C., Sugiyama, T., & Kusunoki, M. (2009). Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. Pediatric surgery international, 25(9), 827-31. https://doi.org/10.1007/s00383-009-2421-z
Otake, Kohei, et al. "Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case." Pediatric surgery international vol. 25,9 (2009): 827-31. doi: https://doi.org/10.1007/s00383-009-2421-z
Otake K, Uchida K, Inoue M, Koike Y, Matsushita K, Miki C, Sugiyama T, Kusunoki M. Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. Pediatr Surg Int. 2009 Sep;25(9):827-31. doi: 10.1007/s00383-009-2421-z. Epub 2009 Jul 24. PMID: 19629498.
Copy Download .nbib Format: NLM
Share it on

Pediatr Surg Int. 2009 Sep;25(9):827-31. doi: 10.1007/s00383-009-2421-z. Epub 2009 Jul 24.

Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.

Pediatric surgery international

Kohei Otake, Keiichi Uchida, Mikihiro Inoue, Yuhki Koike, Kohei Matsushita, Chikao Miki, Takashi Sugiyama, Masato Kusunoki

Affiliations

  1. Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Edobashi 2-174, Tsu, Mie 514-8507, Japan. [email protected]

PMID: 19629498 DOI: 10.1007/s00383-009-2421-z

Abstract

Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.

References

  1. Hum Genet. 1979;50(1):65-70 - PubMed
  2. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26 - PubMed
  3. Am J Med Genet. 1999 Sep 10;86(2):118-23 - PubMed
  4. Clin Genet. 1998 Aug;54(2):161-3 - PubMed
  5. Am J Med Genet. 1998 Sep 23;79(3):215-25 - PubMed
  6. Am J Hum Genet. 2007 May;80(5):825-45 - PubMed
  7. Am J Med Genet A. 2006 Jan 1;140(1):17-23 - PubMed
  8. Fetal Diagn Ther. 2001 Sep-Oct;16(5):265-73 - PubMed
  9. Am J Med Genet A. 2003 Aug 1;120A(4):464-9 - PubMed
  10. Pediatr Dev Pathol. 2005 Jan-Feb;8(1):115-23 - PubMed
  11. Am J Med Genet. 1989 Nov;34(3):422-6 - PubMed
  12. Clin Dysmorphol. 2004 Apr;13(2):111-112 - PubMed
  13. Am J Med Genet. 2001 May 15;100(4):264-8 - PubMed
  14. Genet Couns. 2003;14(1):75-93 - PubMed
  15. J Korean Med Sci. 2005 Oct;20(5):895-8 - PubMed
  16. Prenat Diagn. 1996 Nov;16(11):1003-9 - PubMed

MeSH terms

Publication Types