Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p |
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| Authors: | Françoise Serville Claudine Junien J Cl Kaplan Monique Gachet J Cadoux A Broustet |
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| Institution: | (1) Centre de Transfusion, place Amélie-Raba-Léon, F-33035 Bordeaux, France;(2) Institut de Pathologie Moléculaire, 24 rue du Faubourg Saint Jacques, F-75014 Paris, France;(3) Centre de Rééducation pour Infirmes Moteurs Cérébraux, 12 rue du Maréchal Gallieni, F-33150 Cenon, France |
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| Abstract: | Summary An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm. |
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