De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11·2q14·2)

Y. Mu, D. L. Van Dyke, L. Weiss, S. Olgac

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

A child is described with a de novo direct duplication of the region 2q11·2→2q14·2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.

Original languageEnglish (US)
Pages (from-to)57-58
Number of pages2
JournalJournal of Medical Genetics
Volume21
Issue number1
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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