Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13
β Scribed by Fryns, Jean-Pierre
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 81 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
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.
## 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,