Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypoga...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1983-02, Vol.20 (1), p.69-72
Main Authors: García Miranda, J L, Otero Gómez, A, Varela Ansedes, H, Rancel Torres, N, González Espinosa, C, Cortabarría, C, Sánchez Salgado, G
Format: Article
Language:English
Subjects:
Aneuploidy
Child
Chromosome Banding
Chromosomes, Human, 21-22 and Y
Cytogenetics
Dysgammaglobulinemia - genetics
Female
Humans
IgA Deficiency
Immunodeficiency
Immunoglobulin A
Immunoglobulin G
Immunoglobulin M
Karyotypes
Karyotyping
Monosomy
Research Article
Trypsin
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly as this chromosome is known to contain genes coding for immunoglobulin chains.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.20.1.69