Wilson MG, Towner JW, Forsman I, Siris E
Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. [Case Reports, Journal Article]
Am J Med Genet 1979; 3(2):155-74.
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.
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