Literature DB >> 7864045

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

M Masuno1, K Imaizumi, K Kurosawa, Y Makita, F Petrij, H G Dauwerse, M H Breuning, Y Kuroki.   

Abstract

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.

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Year:  1994        PMID： 7864045     DOI： 10.1002/ajmg.1320530409

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


  3 in total

1.  Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Authors:  R Wallerstein; C E Anderson; B Hay; P Gupta; L Gibas; K Ansari; F S Cowchock; V Weinblatt; C Reid; A Levitas; L Jackson
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

Authors:  J M McGaughran; L Gaunt; J Dore; F Petrij; H G Dauwerse; D Donnai
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Authors:  F Petrij; H G Dauwerse; R I Blough; R H Giles; J J van der Smagt; R Wallerstein; P D Maaswinkel-Mooy; C D van Karnebeek; G J van Ommen; A van Haeringen; J H Rubinstein; H M Saal; R C Hennekam; D J Peters; M H Breuning
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318
  3 in total

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