A molecular deletion study with Southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype

@article{Kamei1988AMD,
  title={A molecular deletion study with Southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype},
  author={Tsutomu Kamei and Jun-ichi Hamabe and Tadashi Matsumoto and Kyohko Abe and Naoki Harada and Satoshi Ishikiriyama and Tomoko Hasegawa and Kiyoshi Miyazaki and Seiji Mizuno and Kouji Narahara and Shigenori Yukizane and Norio Niikawa},
  journal={Japanese Journal of Human Genetics},
  year={1988},
  volume={33},
  pages={477-486}
}
SummaryWe previously proposed a phenotype-karyotype correlation in the Prader-Willi syndrome (PWS). In order to confirm this hypothesis, we analyzed the genomic DNA of 10 clinically typical PWS patients with various chromosome 15 abnormalities, consisting of four [del(15)(q11.1;q12)], one [del(15)(q11;q13)], one [−15,+der(15)(pter::?HSR::p11→q11.1::q12… CONTINUE READING