Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect

Paolo Nucci, Maria Pia Manitto, Antonio Faiella, Edoardo Boncinelli, Rosario Brancato

Research output: Contribution to journalArticlepeer-review

Abstract

The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.

Original languageEnglish
Pages (from-to)129-131
Number of pages3
JournalOphthalmic Genetics
Volume15
Issue number3-4
DOIs
Publication statusPublished - 1994

Keywords

  • Homeobox
  • Homeotic gene
  • Infant
  • Neural crest
  • Nystagmus
  • Translocation

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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