Langer-Giedion syndrome with del 8 (q24.13-q24.22) |
| |
| Authors: | T. Okuno A. Inoue T. Asakura S. Nakao |
| |
| Affiliation: | Department of Orthopedic Surgery, Kurume University School of Medicine, Kurume City, Japan |
| |
| Abstract: | An 8-year-old boy with the features of Langer-Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G-banding techniques revealed an interstitial deletion of the long arm of chromosome 8:46,XY,del(8)(q24.13-q24.22). |
| |
| Keywords: | deletion 8q Langer-Giedion syndrome TRP II multiple exostoses |
|
|
