Detection of KAL-1 gene deletion with fluorescence in situ hybridization.

  title={Detection of KAL-1 gene deletion with fluorescence in situ hybridization.},
  author={J W Hou and Wen-Ju Tsai and Taiyuan Wang},
  journal={Journal of the Formosan Medical Association = Taiwan yi zhi},
  volume={98 6},
We investigated the molecular cytogenetic status of two unrelated boys and their family members because they had features consistent with Kallmann syndrome but normal karyotypes. The first patient was a 6-year-old boy who suffered from ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders including mirror movements of the hands and nystagmus. Mild to moderate mental retardation was also noted in this boy, his mother, and maternal grandmother. Fluorescence in situ… CONTINUE READING