Ring chromosome 14 with localization-related epilepsy: three cases.

@article{Morimoto2003RingC1,
  title={Ring chromosome 14 with localization-related epilepsy: three cases.},
  author={Masafumi Morimoto and Tomohiro Usuku and Masayuki Tanaka and Osamu Otabe and Akira Nishimura and Masaharu Ochi and Yoshihiro Takeuchi and Hiroshi Yoshioka and Tohru Sugimoto},
  journal={Epilepsia},
  year={2003},
  volume={44 9},
  pages={1245-9}
}
Three patients showing epileptic seizures and with mosaicism of ring chromosome 14 and monosomy for chromosome 14 are described. Patients were a 17-year-old boy, karyotype 46, XY, r(14)(p12q32.33)/45, XY, -14, a 7-month-old boy, karyotype 46, XY, r(14)(p11.2q32.33)/45, XY, -14, and a 10-month-old boy, karyotype 46, XY, r(14)(p12q32.31)/45, XY, -14. Microcephaly and alopecia were observed in the first patient. However, few dysmorphic features were found typical of ring 14 chromosome. He had… CONTINUE READING
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