Pallister-Killian syndrome: Cytogenetic and biochemical studies

@article{Narahara1988PallisterKillianSC,
  title={Pallister-Killian syndrome: Cytogenetic and biochemical studies},
  author={Kouji Narahara and Yoshiharu Wakita and Kiyoshi Kikkawa and Kei Hiramoto and Hiroshi Namba and Masae Murakami and Ryozou Kasai and Hiroshi Kimoto},
  journal={Japanese Journal of Human Genetics},
  year={1988},
  volume={33},
  pages={339-347}
}
SummaryPallister-Killian syndrome is characterized by specific dysmorphic features and tissue-limited mosaicism for tetrasomy 12p. We describe an additional case of a stillborn neonate, who had not only the specific craniofacial features seen in the syndrome but also various internal malformations. Cytogenetic study showed that an extra F-like chromosome was found in 43% of lymphocytes and in 90% of fibroblasts. The high resolution G-banded pattern of the extra chromosome was consistent with an… CONTINUE READING
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