Summary
A male infant, 8 and half years old, of short stature, is microcephalic with mental retardation but no facial dysmorphy or other malformation. The caryotype in peripherical leucocyte cultures revealed a chromosome complement with a ring replacing a missing 13–15 chromosome. This ring was identified as a chromosome no 15 by autoradiography.
Résumé
Observation d'un garçon de 8 ans et demi de petite taille, microcéphalique avec retard mental mais sans dysmorphie faciale ou autre malformation. Le caryotype fait à partir de cultures de leucocytes met en évidence la présence d'un anneau remplaçant un chromosome 13–15 absent. L'autoradiographie démontre que l'anneau provient d'un No 15.
Zusammenfassung
Die Autoren berichten über einen 81/2 Jahre alten Jungen mit Kleinwuchs, Mitrocephalie und Schwachsinn. Es fand sich jedoch weder eine Dysmorphie des Gesichtes noch eine andere Mißbildung. Der Karyotyp in peripheren Leukocytenkulturen zeigte ein Ringchromosom an Stelle eines Chromosoms de Gruppe 13–15. Mit Autoradiographie ließ sich dieser Ring als Chromosom Nr. 15 identifizieren.
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Bibliographie
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Clinique des Maladies des enfants et Hygiène du premier âge (Professeur R. Jean)
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Emberger, J.M., Rossi, D., Jean, R. et al. Etude d'une observation de chromosome du groupe 13–15 en anneau (46,XY,15r). Hum Genet 11, 295–299 (1971). https://doi.org/10.1007/BF00278656
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DOI: https://doi.org/10.1007/BF00278656