Terminal deletion of the long arm of chromosome 10: Case report and review of the literature
โ Scribed by Gorinati, Marino ;Zamboni, Gaetano ;Padoin, Nadia ;Dodero, Andrea ;Caufin, Daniele ;Memo, Luigi
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 271 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ 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.
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
Since the first patient with partial deletion of the long arm of chromosome 10 was described in 1978, another 23 cases have been reported, with the breakpoint ranging from 10q23.3-26.2. To contribute further to the delineation of the monosomy 10qter syndrome, we describe a female child who, at age 3