Literature DB >> 7239519

Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.

C Danesino, G Gimelli, C Cuoco, M O Ciccone.   

Abstract

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 beta-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 beta-glucuronidase is possibly assigned to band 7q22.

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Year:  1981        PMID： 7239519     DOI： 10.1007/bf00274695

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate.

Authors:  J Butterworth; D M Droadhead
Journal:  Clin Chim Acta       Date:  1977-07-15       Impact factor: 3.786

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Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

Review 3.  Report of the committee on the genetic constitution of chromosomes 7, 8, and 9.

Authors:  P Meera Khan; E B Robson
Journal:  Cytogenet Cell Genet       Date:  1979

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Authors:  R Berger; C Turc; H Wachter; G Begue
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

5.  [Malformative syndrome with a 46, XX, 7q karyotype without parental translocation: partial duplication?].

Authors:  J D Dubosson; C Cabrol; L Crippa; B Bourgeois
Journal:  Arch Genet (Zur)       Date:  1978

6.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation.

Authors:  M Schmid; J Wolf; H Nestler; W Krone
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

8.  Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.

Authors:  N G Beratis; B M Turner; R Weiss; K Hirschhorn
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756

9.  Full trisomy 7 and Potter syndrome.

Authors:  E Yunis; E Ramírez; J G Uribe
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  9 in total
  4 in total

Review 1.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Authors:  Linda Siggberg; Aki Mustonen; Robert Schuit; Gajja S Salomons; Birthe Roos; K Michael Gibson; Cornelis Jakobs; Jaakko Ignatius; Sakari Knuutila
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-03-22       Impact factor: 3.568

3.  Polycythemia in transgenic mice expressing the human erythropoietin gene.

Authors:  G L Semenza; M D Traystman; J D Gearhart; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

Review 4.  Glycosidases in cancer and invasion.

Authors:  R J Bernacki; M J Niedbala; W Korytnyk
Journal:  Cancer Metastasis Rev       Date:  1985       Impact factor: 9.264
  4 in total

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