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

Julia Habecker-Green, Rizwan Naeem, R. Michael Scott, Camille Kanaan, Lucy Bayer-Zwirello, Gabriel Cohn

Research output: Contribution to journalArticle

3 Scopus citations

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. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)179-183
Number of pages5
JournalAmerican journal of medical genetics
Volume94
Issue number3
DOIs
StatePublished - Sep 18 2000
Externally publishedYes

Keywords

  • De novo translocation (8;12)
  • Frontofacionasal dysostosis
  • Frontofacionasal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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