A tale of two deletions: A report of two novel 20p13 → pter deletions

Anna K. McGill, Matthew T. Pastore, Gail E. Herman, Sarah Alliman, Jill A. Rosenfeld, David D. Weaver

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

We report on two patients with 1.7 and 1.2Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification.

Original languageEnglish (US)
Pages (from-to)1000-1007
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number4
DOIs
StatePublished - Apr 1 2010

Keywords

  • Chromosome anomaly
  • Comparative genomic hybridization
  • Del 20p13 → pter
  • Microarray
  • Multiple birth defects
  • Terminal deletion 20p

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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