Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. American journal of medical genetics. [Am J Med Genet] Journal article | | Title | Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. | | Author(s) | Wilson MG, Towner JW, Forsman I, Siris E | | Source | Am J Med Genet 1979; 3(2):155-74. | | MeSH | Abnormalities, Multiple Adolescent Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, 16-18 Chromosomes, Human, 6-12 and X Face Female Growth Disorders Humans Immunoglobulins Infant Karyotyping Male Mental Retardation Research Support, U.S. Gov't, P.H.S. Syndrome Translocation, Genetic
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports Journal Article
| | PubMed ID | 474629 |
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