Molecular and clinical study of 61 Angelman syndrome patients.

@article{Saitoh1994MolecularAC,
  title={Molecular and clinical study of 61 Angelman syndrome patients.},
  author={Shinji Saitoh and Naoki Harada and Yoshihiro Jinno and Kazuyoshi Hashimoto and Kazunori Imaizumi and Yoshikazu Kuroki and Yoshimitsu Fukushima and Toshitsugu Sugimoto and M{\'o}nica Renedo and Joseph E. Wagstaff},
  journal={American journal of medical genetics},
  year={1994},
  volume={52 2},
  pages={
          158-63
        }
}
We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion, which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3… CONTINUE READING

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