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Deletions of the long arm of chromosome 6: Two new cases and review of the literature

✍ 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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Small terminal deletions of the long arm
✍ Fisher, Andrew M. ;Ellis, Katrina H. ;Browne, Caroline E. ;Barber, John C. K. ;B πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 452 KB πŸ‘ 2 views

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.

Report of two cases of distal deletion o
✍ Stevens, Cathy A ;Fineman, Robert M. ;Breg, W. Roy ;Silken, Alan B. ;Optiz, John πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 398 KB πŸ‘ 1 views

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

Deletion of a portion of the long arm of
✍ Goldberg, Rosalie ;Fish, Bernard ;Ship, Arthur ;Shprintzen, Robert J. πŸ“‚ Article πŸ“… 1980 πŸ› John Wiley and Sons 🌐 English βš– 333 KB πŸ‘ 1 views

## Abstract We describe a 3‐year‐old 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 low‐set and posteriorly angulated ears, micrognathia, cardiac defects,