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1. [A further example of chromosome 18q-associated with IgA deficiency in serum and saliva (author's transl)].

Author

Waldenmaier C, Hirsch W, Shibata K, and Kothe I

Subjects
Abnormalities, Multiple etiology, Cells, Cultured, Child, Preschool, Dermatoglyphics, Humans, In Vitro Techniques, Intellectual Disability complications, Karyotyping, Lymphocytes immunology, Male, Chromosome Aberrations, Chromosomes, Human, 16-18, IgA Deficiency, Immunologic Deficiency Syndromes complications
Abstract

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.

Published
1975

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