De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy

Am J Med Genet. 2000 Sep 18;94(3):179-83. doi: 10.1002/1096-8628(20000918)94:3<179::aid-ajmg1>3.0.co;2-n.

Abstract

We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Craniofacial Abnormalities / genetics*
  • Dysostoses / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Syndrome
  • Translocation, Genetic / genetics*
  • Triplets