Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation
Journal Article
·
· American Journal of Medical Genetics
- Washington Univ. School of Medicine, St. Louis, MO (United States)
We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t(5;11)(q13.3; p15.1)]. The patient had developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel-Trenaunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to 5q or 11p. 12 refs., 2 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443765
- Journal Information:
- American Journal of Medical Genetics, Vol. 59, Issue 4; Other Information: PBD: 4 Dec 1995
- Country of Publication:
- United States
- Language:
- English
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