We describe the first proven Occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with I-DOPA, arginine,
Osteogenic sarcoma in the Rothmund-Thomson syndrome
β Scribed by Leonard, Andrea; Craft, Alan W.; Moss, Celia; Malcolm, Archie J.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 377 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0098-1532
No coin nor oath required. For personal study only.
β¦ Synopsis
Two children who had the Rothmund-whom information was available showed un-Thomson syndrome and developed osteo-due sensitivity to cancer chemotherapy agents sarcoma are reported. The 10 previously re-with prolonged myelosuppression and severe ported cases are reviewed. The osteosarco-mucositis. It is recommended that doxorubimas developed at a younger age than cin in particular should be given with extreme normally expected and 66% occurred in the caution in such patients.
π SIMILAR VOLUMES
We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(qll;p13) pattern. ## Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis associated with increased risk of mesenchymal tumors. The putative gene has been provisionally assigned to chromosome 8. Using a cytogenetic-molecular approach, we studied lymphocytes, fibroblasts, osteosarcoma (OS) and mal