A case report of a presumptive +i(18p) associated with serum IgA deficiency.
The case of a 4-month-old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D003878:Dermatoglyphics; D004406:Dysgammaglobulinemia / Q000235:genetics*; D006801:Humans; D007070:Immunoglobulin A; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics
D007070:Immunoglobulin A