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A specific syndrome due to deletion of the distal long arm of chromosome 1

✍ Scribed by Meinecke, Peter ;Vögtel, Dagmar ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
343 KB
Volume
28
Category
Article
ISSN
0148-7299

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📜 SIMILAR VOLUMES


Report of two cases of distal deletion o
✍ Stevens, Cathy A ;Fineman, Robert M. ;Breg, W. Roy ;Silken, Alan B. ;Optiz, John 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 398 KB 👁 2 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. 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB 👁 2 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,