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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.[1]

References

  1. Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. McLeod, D.R., Wesselman, L.R., Hoar, D.I. J. Med. Genet. (1991) [Pubmed]
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