46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.

Journal Article (Journal Article)

An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.

Full Text

Duke Authors

Cited Authors

  • Neu, RL; Stockman, JA; Spitzer, RE; Tomar, RH

Published Date

  • August 1, 1976

Published In

Volume / Issue

  • 13 / 4

Start / End Page

  • 332 - 334

PubMed ID

  • 957385

Pubmed Central ID

  • PMC1013428

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.13.4.332


  • eng

Conference Location

  • England