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Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q

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Summary

A 2-year-old girl had a de novo duplication in the long arm of one chromosome 7 and an increased level of the enzyme β-glucuronidase in cultured fibroblasts. The phenotype of the girl partly overlaps those of two presumptive syndromes due to secondary partial trisomies 7q. The ratio of the enzyme activity was 1.43 to the controls, and 1.37 to her parent's values. We could not define the abnormality but suggest two alternatives: either the patient is trisomic for region q112 to q22 or for the region q22 to q34. If the second alternative is correct the locus for β-glucuronidase is possibly assigned to band 7q22.

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References

  • Beratis NG, Turner BM, Weiss R, Hirschhorn K (1975) Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: cellular studies and carrier identification. Pediatr Res 9: 475–480

    Article  CAS  Google Scholar 

  • Berger R, Turc C, Wachter H, Begue G (1977) Partial 7q trisomy. Clin Genet 11:39–42

    Article  CAS  Google Scholar 

  • Butterworth J, Broadhead DM (1977) Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-a-d-glucopyranoside as substrate. Clin Chim Acta 78:335–342

    Article  CAS  Google Scholar 

  • Dubosson JD, Cabrol C, Crippa L, Bourgeois B (1978) Syndrome malformatif avec caryotype 46,XX,7q+sans translocation parentale: duplication partielle? Arch Genet (Zur) 51:56–62

    CAS  Google Scholar 

  • Junien C, Rubinson-Skala H, Dreyfus JC, Ravise N, Boué J, Boué A, Kaplan JC (1980) PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance. Hum Genet 54:191–196

    Article  CAS  Google Scholar 

  • Meera Khan P, Robson EB (1979) Report of the Committee on genetic consititution of chromosomes 7, 8 and 9. Cytogenet Cell Genet 25:39–46

    Article  CAS  Google Scholar 

  • Schmidt M, Wolf J, Nestler H, Krone W (1979) Partial trisomy for the long arm of chromosome 7 due tofamilial balanced translocation. Hum Genet 49:283–289

    Article  Google Scholar 

  • Yunis E, Ramirez E, Uribe JG (1980) Full trisomy 7 and Potter syndrome. Hum Genet 54:13–18

    Article  CAS  Google Scholar 

  • Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268–1270

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Istituto di Biologia Generale e Genetica Medica, Università di Pavia, C. P. 217, I-27100, Pavia, Italy

    C. Danesino

  2. Laboratorio II, Istituto G. Gaslini, Genova, Italy

    G. Gimelli & Cristina Cuoco

  3. Medicina III, Istituto G.Gaslini, Genova, Italy

    Maria Ottavia Ciccone

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  1. C. Danesino
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  2. G. Gimelli
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  3. Cristina Cuoco
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  4. Maria Ottavia Ciccone
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Danesino, C., Gimelli, G., Cuoco, C. et al. Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q. Hum Genet 56, 371–373 (1981). https://doi.org/10.1007/BF00274695

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  • DOI: https://doi.org/10.1007/BF00274695

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