Duplication 8 [inv dup(8)(p12p23)] with macrocephaly

Vijay S. Tonk, Golder N. Wilson, Gopalrao V.N. Velagaleti

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.

Original languageEnglish (US)
Pages (from-to)195-199
Number of pages5
JournalAnnales de Genetique
Volume44
Issue number4
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

Keywords

  • Chromosome aberrations
  • Dup(8p) syndrome
  • Macrocephaly

ASJC Scopus subject areas

  • Genetics

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