[A further example of chromosome 18q-associated with IgA deficiency in serum and saliva (author's transl)].
In a 3 1/2 years old boy with congenital malformations, statomotoric and mental retardation and immunological defects the chromosomal aberation 46,XY, 18q- was found. The result of the G-band analysis was 46,XY, del (18) (pter yields q11::q21 leads q ter) or 46,XY, del (18) (pter leads q21). The structural genes for the systems Gm, PGM-1 and HL-A presumably are not localized on the deleted chromosomal segment.
D000015:Abnormalities, Multiple / Q000209:etiology; D002478:Cells, Cultured; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D003878:Dermatoglyphics; D006801:Humans; D017098:IgA Deficiency; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D066298:In Vitro Techniques; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D008214:Lymphocytes / Q000276:immunology; D008297:Male
Ein Beitrag zur 18q-Deletion mit Immungolbulinmangel