Pallister-Killian syndrome: Cytogenetic and biochemical studies

  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},
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
2 Citations
27 References
Similar Papers


Publications referenced by this paper.
Showing 1-10 of 27 references

A case with Pallister mosaic syndrome encountered in prenatal diagnosis (the author's translation)

  • Y. Hiraishi, S. Tamura, +7 authors Y. Yanagi
  • Abstracts ((2 24) in the 32nd Annual Meeting of…
  • 1987

Mosaic tetrasomy 12 p

  • R. M. Pauli, R. A. Zeier, G. S. Sekhon
  • Am . or . Med . Genet .
  • 1987

Mosaic tetrasomy 12p

  • R. M. Pauli, R. A. Zeier, G. S. Sekhon
  • Am. or. Med. Genet. 27: 291-294.
  • 1987
1 Excerpt

Similar Papers

Loading similar papers…