Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients |
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| Authors: | C Turleau J de Grouchy F Chavin-Colin C Junien J Séger P Schlienger A Leblanc C Haye |
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| Institution: | 1. Laboratoire de Cytogénétique Humaine et Comparée, ER.149 CNRS, U 173 INSERM, Paris France;2. Institut de Pathologie Moléculaire, Hôpital Necker-Enfants-Malades France;3. Centre National de Transfusion Sanguine, Hôpital Necker-Enfants-Malades France;4. Institut Curie, Hôpital Necker-Enfants-Malades France;5. Institut Gustave Roussy, Hôpital Necker-Enfants-Malades France;6. Service d''Ophtalmologie, Hôpital Necker-Enfants-Malades France |
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| Abstract: | Sixty-six retinoblastoma patients were investigated using high resolution banding techniques, sister chromatid exchange (SCE) studies, and esterase-D phenotype determination and dosage. Seven patients (in six families) were found to be carriers of a rearrangement of band 13q14 due to de novo deletions, apparently balanced de novo translocations, or parental insertions. The possible role of submicroscopic parental insertions is suggested to explain transmission of nonchromosomal forms through unaffected carriers. |
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| Keywords: | Address requests for reprints to Dr Jean de Grouchy Hôpital Necker-Enfants-Malades 149 rue de Sèvres 75743 Paris Cedex 15 France |
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