Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.
The finding of an unbalanced t(18;22)pat chromosome rearrangement in a boy with multiple anomalies including apparent absence of the thymus is described. The observation is of interest because of the reported association of chromosome 22 rearrangements with the DiGeorge sequence. In contrast to previous reports of this association, the deletion involving chromosome 22 is confined to the short arm.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000276:immunology; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic