Partial duplication of 4q12q13 leads to a mild phenotype.

Journal Article (Journal Article)

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proximal portion of chromosome 4q are relatively unknown. A comparison of the clinical manifestations of our patient and the single published case suggests that the phenotype of this proximal 4q duplication is relatively mild. This study emphasizes the need to perform chromosome analysis in similar mildly affected/nonspecific cases.

Full Text

Duke Authors

Cited Authors

  • Shashi, V; Berry, MN; Santos, C; Pettenati, MJ

Published Date

  • September 3, 1999

Published In

Volume / Issue

  • 86 / 1

Start / End Page

  • 51 - 53

PubMed ID

  • 10440828

International Standard Serial Number (ISSN)

  • 0148-7299


  • eng

Conference Location

  • United States