Abstract |
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
|
Authors | K L Ying, J Oizumi, C J Curry |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 27
Issue 4
Pg. 258-60
(Apr 1990)
ISSN: 0022-2593 [Print] England |
PMID | 2325107
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Child
- Chromosomes, Human, Pair 8
- Humans
- Male
- Mosaicism
- Rothmund-Thomson Syndrome
(diagnosis, genetics)
- Skin Diseases
(genetics)
- Trisomy
|