References
- De Grouchy J, Royer P, Salmon C, Lamy M. Délétion partielle du bras long du chromosome 18. Pathol Biol (Paris) 1964 May;12:579–582
- Cody JD, Ghidoni PD, DuPont BR, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999;85:455–462
- Cody JD, Heard PL, Crandall AC, et al. Narrowing critical regions and determining penetrance for selected 18q- phenotypes. Am J Med Genet A 2009 July;149A:1421–1430
- Schinzel A, Binkert F, Lillington DM, et al. Interstitial deletion of the long arm of chromosome 18 del (18)(q12q21.1): a report of three cases. J Med Genet 1991;28:352–355
- Law EM, Masterson JG. Familial 18q- syndrome. Ann Genet 1969;12:215–222
- Feenstra I, Vissers LE, Orsel M, 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 Aug 15;143A:1858–1867
- Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q-syndrome and correlation with phenotype. Am J Hum Genet 1993;52:895–906
- Engelen JJ, Moog U, Weber J, et al. Deletion of chromosome region 18q21.1>>18q21.3 in a patient without clinical features of the 18q- phenotype. Am J Med Genet A 2003 June 15;119A:356–359
- Kato Z, Maimoto W, Kimura T, et al. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46,XX, del(18)(q21.2q21.33). Birth Defects Res A Clin Mol Teratol 2010 Feb;88(2):132--135
- Yanoff M, Rorke LB, Niederer BS. Ocular and cerebral abnormalities in chromosome 18 deletion defect. Am J Ophthalmol 1970;70:391–402
- Felding I, Kristoffersson U, Sjöström H, Norén O. Contribution to the 18q- syndrome. A patient with del (18)(q22.3qter). Clin Genet 1987;31:206–210
- Izquierdo NJ, Maumenee IH, Traboulsi EI. Anterior segment malformations in 18q- (de Grouchy) syndrome. Ophthalmic Paediatr Genet 1993;14:91–97
- Mataftsi A, Islam L, Kelberman D, et al. Chromosomal abnormalities and the genetics of congenital corneal opacification. Mol Vis 2011;17:1624–1640