Literature DB >> 3228144

Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.

D Chitayat1, B C McGillivray, S Wood, D K Kalousek, S Langlois, D A Applegarth.   

Abstract

We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme beta-glucuronidase and the DNA probes around the cystic fibrosis gene--pJ3.11 and metH. Both the beta-glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.

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Year:  1988        PMID: 3228144     DOI: 10.1002/ajmg.1320310321

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.

Authors:  L Martínez-Jacobo; C Córdova-Fletes; R Ortiz-López; F Rivas; C Saucedo-Carrasco; A Rojas-Martínez
Journal:  Mol Syndromol       Date:  2013-09

2.  A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

Authors:  K Fagan; A Gill; R Henry; I Wilkinson; B Carey
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

  2 in total

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