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Das XXXXY-Syndrom

Bericht über 7 neue Fälle und Literaturübersicht

The XXXXY syndrome

Report of 7 new cases and review of the literature

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Abstract

In addition to 47,XXY Klinefelter's syndrome, several variants have been described. The anomalies most frequently found have the karyotypes 46,XX, 48,XXYY, 48,XXXY, and 49,XXXXY. Because of its unequivocal symptomatology the 49,XXXXY chromosome aberration has a prominent place among them. Seven new cases of this rare syndrome are described and 79 cases published up to 1972 are reviewed. Frequent symptoms are prenatal dystrophy, marked psychomotor retardation, hypoplastic genitals, the peculiar facial features, and skeletal malformations affecting particularly the forearms and hands (radioulnarsynostosis, clinodactyly or brachyphalangy of the fifth fingers, metacarpal pseudoepiphyses). Rare symptoms are ocular malformations and congenital heart defects, especially an open arterial duct. Xg blood group analysis made it possible to demonstrate the maternal origin of all four X chromosomes in some cases. In these cases successive non-disjunction of maternal X chromosomes is discussed.

Zusammenfassung

Neben dem klassischen Klinefelter-Syndrom mit der Chromosomenkonstellation 47,XXY stehen heute eine Reihe von Varianten, deren häufigste 46,XX, 48,XXYY, 48,XXXY und 49,XXXXY sind. Auf Grund seiner unverkennbaren Symptomatologie nimmt das XXXXY-Syndrom unter ihnen eine Sonderstellung ein. Mindestens 79 Fälle dieses Karyotyps wurden bis Ende 1972 in der Literatur mitgeteilt. 7 neue Fälle dieses seltenen Syndroms werden beschrieben. Häufige Symptome sind die intrauterine Dystrophie, die erhebliche psychomotorische Retardierung, das hypoplastische Genitale, eine eigenartige Facies und Skeletanomalien, die vor allem Unterarm und Hand betreffen (radioulnare Synostose, Klinodaktylie oder Brachyphalangie der 5. Finger, Pseudoepiphysen der Mittelhandknochen). Seltenere Symptome sind Augenfehler und angeborene Vitien, insbesondere ein offener Ductus Botalli. Mit Hilfe der Xg-Blutgruppenanalyse war es mehrfach möglich, den Nachweis zu erbringen, daß alle 4 X-Chromosomen mütterlicher Herkunft sein müssen. Als Ursache der Polysomie des X-Chromosoms wird daher in diesen Fällen eine sukzessive Non-disjunction diskutiert.

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Authors and Affiliations

  1. Kinderkrankenhaus der Stadt Köln, Köln, Deutschland

    H. G. Terheggen

  2. Universitäts-Kinderklinik Köln, Köln, Deutschland

    H. G. Terheggen

  3. Abteilung für Klinische Genetik und Cytogenetik, Institut für Humangenetik der Universität Münster, Münster, Deutschland

    R. A. Pfeiffer

  4. Kinderkrankenhaus der Stadt Köln, Köln, Deutschland

    H. Haug

  5. Kinderklinik im Krankenhaus Neuwerk, Mönchengladbach

    M. Hertl & Anke Diggins

  6. Kinderklinik des Zentralkrankenhauses „Links der Weser”, Bremen

    W. Schünke

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Terheggen, H.G., Pfeiffer, R.A., Haug, H. et al. Das XXXXY-Syndrom. Z. Kinder-Heilk. 115, 209–233 (1973). https://doi.org/10.1007/BF00440360

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