Distal deletion of the long arm of chromosome 6: A specific phenotype ?
β Scribed by Fryns, Jean-Pierre ;Bettens, Walter ;Berghe, Herman Van Den ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 229 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
## Abstract We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively nonβspecific phenotype, with the poss
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,