A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

@article{Leeuw2008ANR,
  title={A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.},
  author={Nicole de Leeuw and Rolph Pfundt and David A. Koolen and Ineke Neefs and Ine Scheltinga and Hanneke Mieloo and Erik A Sistermans and Willy M. Nillesen and Dominique F. C. M. Smeets and Bert B A de Vries and Nine V. A. M. Knoers},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 2},
  pages={122-4}
}
A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to nonconsanguineous parents after 42 weeks’ gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was… CONTINUE READING