How to cite this article: Shanske AL, Patel A, Saukam S, Levy B, Lüdecke H-J. 2008. Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet Part A 146A:3211–3216.
Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)†
Version of Record online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3211–3216, 15 December 2008
How to Cite
Shanske, A. L., Patel, A., Saukam, S., Levy, B. and Lüdecke, H.-J. (2008), Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13). Am. J. Med. Genet., 146A: 3211–3216. doi: 10.1002/ajmg.a.32615
- Issue online: 21 NOV 2008
- Version of Record online: 14 NOV 2008
- Manuscript Accepted: 4 SEP 2008
- Manuscript Received: 7 APR 2008
- Deutsche Forschungsgemeinschaft. Grant Number: LU483/5-4
- tricho-rhino-phalangeal syndrome type II;
- Langer–Giedion syndrome;
- multiple exostoses;
- mosaic interstitial deletion;
- GeneChip® analysis
The tricho-rhino-phalangeal syndrome type II (TRPS II) is characterized by sparse scalp hair, a long nose with a bulbous tip, a long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous exostoses. All patients have a hemizygous deletion on chromosome 8q23.3-24.11 which spans at least the 2.8 Mb-region from TRPS1 through EXT1. Only patients with deletions that extend beyond this interval tend to have mental retardation. Here we describe a 14.5-year-old girl with mental retardation and TRPS II. Her facial features are only mild, but she has the typical skeletal features including cone-shaped epiphyses at the phalanges, retarded bone age, multiple exostoses and short stature. She is the first patient with TRPS II and a molecularly proven mosaic interstitial deletion in 8q22.3-q24.13. The deletion is one of the largest ever found in TRPS II, and spans 19.79 Mb and 50 genes or loci including TRPS1 and EXT1. The degree of mosaicism is 7% in lymphocytes from peripheral blood and 97% in skin fibroblasts. © 2008 Wiley-Liss, Inc.