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CASE REPORT

Ocular Anomalies Associated with Interstitial Deletion of Chromosome 2q31: Case Report and Review

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Pages 105-109 | Received 03 Jul 2006, Accepted 05 Mar 2007, Published online: 08 Jul 2009

REFERENCES

  • Boles R, Pober B, Gibson L, et al. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Med Genet. 1995; 55: 155–160
  • Limongi M, Pelliccia F, Gaddini L, Rocchi A. Clustering of two fragiles sites and seven homeobox genes in human chromosome region 2q31-2q32.1. Cytogenet Cell Genet. 2000; 90: 151–153
  • Nixon J, Oldridge M, Wilkie A, Smith K. Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: Cytogenetic and molecular investigation. Am J Med Genet. 1997; 70: 324–327
  • Shabtai F, Klar D, Halbrecht I. Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31). Ann. Genet. 1982; 25(3)156–158
  • Bijlsma E, Knegt A, Bilardo C, Goodman F. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Prenat Diagn. 2005; 25(1)39–44
  • Goodman F, Majewski F, Collins A, Scambler P. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet. 2002; 70: 547–555
  • Del Campo M, Jones M, Veraksa A, et al. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes HOXD cluster. Am J Hum Genet. 1999; 65: 104–110
  • Maas S, Hoovers J, Van Seggelen M, Menzel D, Hennekam R. Interstitial deletion of the long arm of chromosome 2: A clinically recognizable microdeletion syndrome?. Clin Dysmorph. 2000; 9: 47–53
  • Dufier J L, Kaplan J. Eye and Genetics [Translation]. Rapport de la Société Française d'Ophtalmologie. Masson, Paris 2005

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