We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases.
Deletions of the long arm of chromosome 6: Two new cases and review of the literature
β Scribed by Young, R. S. ;Fidone, G. S. ;Reider-Garcia, P. A. ;Hansen, K. L. ;McCombs, J. L. ;Moore, C. M. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 427 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-7299
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We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q2546qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have de
## Abstract We describe a 3βyearβold male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently lowβset and posteriorly angulated ears, micrognathia, cardiac defects,