The Pallister-Killian syndrome in an African individual.
作者信息
Woodman B F, Jordan M A, Moller L I, Cartwright J D, De Ravel T J
机构信息
Department of Human Genetics, School of Pathology, South African Institute for Medical Research.
出版信息
Genet Couns. 1995;6(1):33-6.
PMID:7794559
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.
摘要
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