Abstract
Four children, two girls and two boys, were found to have a short arm deletion of chromosome No. 18. Three of them exhibit a typical dysmorphy of the face showing retraction of the midface, broad-based, flat nose, hypertelorism, epicanthus, “carp mouth”, big, protruding, and low set ears, as well as a variable number of Turner-like features, failure of growth, mental retardation, and muscular hypotonia. A newly born child, who diet at 2 days of age exhibited severe brain defects of holoprosencephalic series. The clinical and cytogenetic findings are compared with the reviewed data of the 18 p deletion. The hypothesis of “gene-dosis compensation” is discussed in order to explain the variable phenotypical expression of 18 p- syndrome as there is obviously no correlation between the extent of the deficiency and the expression of malformations.
Zusammenfassung
Es wird über 4 Kinder, 2 Mädchen und 2 Jungen, mit einer Deletion am kurzen Arm des Chromosoms Nr. 18 berichtet. 3 Patienten zeigten Minderwuchs, mentale Retardation und ein charakteristisches Dysplasiemuster im Gesicht mit Hypertelorismus, Epicanthus, breit-basiger, flacher Nase, Karpfenmund, großen, abstehenden, tief ansetzenden Ohren, variablen Turner-Stigmata, Muskelhypotonie. Ein Neugeborenes, welches 2 Tage post partum verstarb, wies den bekannten schwersten Ausprägungsrad mit holoprosencephaler Hirnmißbildung auf. Die klinischen und cytogenetischen Befunde werden mit den bekannten Daten über das 18 p- Syndrom verglichen. Die Hypothese einer “Gen-Dosis-Kompensation” wird diskutiert, mit der sich der unterschiedliche Schweregrad im phänotypischen Ausdruck erklären ließe, da sich keine Korrelation zwischen der Größe der Defizienz und dem Grad der Mißbildungen feststellen läßt.
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Dedicated to Herrn Prof. Dr. med. H. Schönenberg on his 60th birthday.
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Faust, J., habedank, M. & Nieuwenhuijsen, C. The 18 p- syndrome. Eur J Pediatr 123, 59–66 (1976). https://doi.org/10.1007/BF00497681
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DOI: https://doi.org/10.1007/BF00497681