The Pallister-Killian syndrome in an African individual

Woodman, B.F., Jordan, M.A., Moller, L.I., Cartwright, J.D., and De Ravel, T.J.L. (1995) The Pallister-Killian syndrome in an African individual. Genetic Counseling, 6 (1). pp. 33-36.

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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.

Item ID: 22002
Item Type: Article (Refereed Research - C1)
Keywords: PaIlister-Killian syndrome; isochromosome 12p
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ISSN: 1015-8146
Date Deposited: 05 Jul 2012 04:16
FoR Codes: 06 BIOLOGICAL SCIENCES > 0604 Genetics > 060499 Genetics not elsewhere classified @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 100%
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