Summary
A new case of 46XX/47XX 18+mosaicism is presented and the clinical findings of this type of mosaicism are discussed with particular emphasis on congenital asymmetry and elevation of sweat chlorides.
Zusammenfassung
Chromosomale Mosaiken 46/47, 18+sind sehr selten; nur acht solche Fälle sind bisher beobachtet worden. Ein neunter Fall wird in der vorliegenden Arbeit beschrieben. Die Symptomatologie dieser Chromosomenanomalie — derjenigen der Trisomie 18 sehr ähnlich — wird besprochen, wobei besonders darauf hingewiesen wird, daß der Patient leicht erhöhte Chloride im Schweiß und eine auffallende Körperasymmetrie aufwies. Körperasymmetrien sind schon mehrfach bei 46/47, 18+Mosaik beobachtet worden. Eine kausale Beziehung zwischen dieser Chromosomenanomalie und der Körperasymmetrie wird diskutiert.
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Supplemented by a fellowship of NATO (Dr. L. Pavone) and a Special Project Budget MR 12, HEW, Children's Bureau, Clinical Research in Mental Retardation and Genetic Study.
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Pavone, L., Zellweger, H., Abbo, G. et al. A case of trisomy 18 mosaicism with peculiar features. Hum Genet 11, 29–34 (1970). https://doi.org/10.1007/BF00296301
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DOI: https://doi.org/10.1007/BF00296301