Retinoblastoma-del(13q14): Report of two patients,one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D |
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| Authors: | Horacio Rivera Catherine Turleau Jean de Grouchy Claudine Junien Suzy Despoisse Jean-Michel Zucker |
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| Institution: | (1) U. 173 INSERM, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75743 Paris Cedex 15, France;(2) E.R. 149 CNRS, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75743 Paris Cedex 15, France;(3) Institut de Pathologie Moléculaire, INSERM U. 128, 24, rue du Faubourg Saint Jacques, F-75674 Paris Cedex 14, France;(4) Institut Pierre et Marie Curie, 26, rue d'Ulm, F-75231 Paris Cedex 05, France |
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| Abstract: | Summary Two cases of del(13)-retinoblastoma are reported. Case 1, a 13-month-old male, was monosomic due to the malsegregation of the maternal ins(20;13)(p12;q1307q14.3). The patient's sister was trisomic for 13q1307q14.3 with no evident phenotypic effect. Case 2 was a 20-month-old female with a de novo del(13)(q1303q14.3). In both instances esterase D activity showed a remarkable gene-dosage effect in monosomy, disomy, and trisomy, thus confirming the assignment of the gene locus to 13q14, and more precisely to the proximal half of this band. In all instances, the ESTD phenotypes were 1-1. It is suggested that esterase D activity should become an important diagnostic criteria for the various etiological forms of retinoblastoma. |
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