Parental origin of the isochromosome 12p
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Struthers, J.L.; Cuthbert, C.D.; Khalifa, M.M.
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Article
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1999
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John Wiley and Sons
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English
⚖ 36 KB
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Pallister-Killian syndrome (PKS) is characterized by multiple congenital anomalies including pigmentary skin changes, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)]. Mechanism(s) of formation and parental origin of the isochromosome are not well understood