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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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 Type:||Article (Refereed Research - C1)|
|Keywords:||PaIlister-Killian syndrome; isochromosome 12p|
|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%|