The Pallister-Killian syndrome in an African individual

Journal Publication ResearchOnline@JCU
Woodman, B.F.;Jordan, M.A.;Moller, L.I.;Cartwright, J.D.;De Ravel, T.J.L.
Margaret Jordan
Abstract

We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.

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6

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1015-8146

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1

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4

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Editions Medecine et Hygiene

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