46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
- 1 August 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (4), 332-334
- https://doi.org/10.1136/jmg.13.4.332
Abstract
An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these 2 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.This publication has 16 references indexed in Scilit:
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