Legal Medicine
Volume 12, Issue 3 , Pages 144-147 , May 2010

Autopsy case of a patient with 13q syndrome

Received 13 November 2009 ,Revised 24 December 2009 ,Accepted 25 December 2009.

References 

  1. Wang HC, Melnyk J, Mc DL, Uchida IA, Carr DH, Goldberg B. Ring chromosomes in human beings. Nature. 1962;195:733–734
  2. Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, et al. The 13q-deletion syndrome. Am J Hum Genet. 1969;21:499–512
  3. Nichols WW, Miller RC, Hoffman E, Albert D, Weichselbaum RR, Nove J, et al. Interstitial deletion of chromosome 13 and associated congenital anomalies. Hum Genet. 1979;52:169–173
  4. Carmichael A, Addy DP, Shortland-Webb WR, Cameron AH, Davies IC. 13q syndrome. Family study. Arch Dis Child. 1977;52:972–974
  5. Fryns JP, Peeters R, Petit P, Van den Berghe H. New chromosomal syndromes. III. The 13q deletion syndrome. Acta Paediatr Belg. 1980;33:261–264
  6. Ganesh A, Kenue RK, Mitra S. Retinoblastoma and the 13q deletion syndrome. J Pediatr Ophthalmol Strabismus. 2001;38:247–250
  7. Niebuhr E. Partial trisomies and deletions of chromosome 13. In:  Yunis JJ editors. New chromosomal syndromes. New York: Academic Press; 1977;p. 273–299
  8. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45:52–59
  9. Brown S, Russo J, Chitayat D, Warburton D. The 13q syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet. 1995;57:859–866
  10. Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW. Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet. 2001;102:231–236

PII: S1344-6223(10)00004-0

doi: 10.1016/j.legalmed.2009.12.005

Legal Medicine
Volume 12, Issue 3 , Pages 144-147 , May 2010