A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

@article{Cho2010ADM,
  title={A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.},
  author={Tae-Joon Cho and Ok-Hwa Kim and In ho Choi and Gen Nishimura and Andrea Superti-Furga and Kang Suhp Kim and Y H Lee and Woong-Yang Park},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 9},
  pages={638-9}
}
A three-generation family with four patients affected by a novel mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this… CONTINUE READING