Summary
A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. Break points were at 13q12 and 13q14. After comparison with other known observations of retinoblastoma with deletion of chromosome 13, it is suggested that the deletion common to these patients may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.
Résumé
Une fillette légèrement arriérée mentale, et pratiquement non malformée, est atteinte d'un rétinoblastome bilatéral. Son caryotype leucocytaire montre une monosomie 13 partielle par délétion (q12→q14). La synthèse de toutes les observations de rétinoblastome avec délétion du chromosome 13, examinées en techniques de bandes, paraît montrer que le point commun en est la délétion de la bande q14. L'hypothèse pathogénique la plus probable fait appel au phénomène de l' «haplo-insuffisance».
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Walbaum, R., François, P., Farriaux, JP. et al. Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14). Hum Genet 44, 219–226 (1978). https://doi.org/10.1007/BF00295418
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DOI: https://doi.org/10.1007/BF00295418