46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
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.
D000380:Agranulocytosis / Q000235:genetics*; D001853:Bone Marrow / Q000648:ultrastructure; D001854:Bone Marrow Cells; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009503:Neutropenia / Q000235:genetics*; D010641:Phenotype; D011414:Properdin / Q000172:deficiency*
D011414:Properdin