Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].
We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic
D007136:Immunoglobulins