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The Pallister-Killian syndrome in an African individual
B F Woodman1, M A Jordan, L I Moller
1Department of Human Genetics, School of Pathology, South African Institute for Medical Research.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
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.