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

Journal of Medical Genetics

Volumn 33, Issue 1, 1996, Pages 82-83

  McGaughran, Julie M ^a   Gaunt, Lorraine ^a   Dore, Jonathan ^a   Petrij, Fred ^b   Dauwerse, Hans G ^b   Donnai, Dian ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Probe RT1; Rubinstein Taybi syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16P; COSMID; DELETION MUTANT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; MALE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; UNITED KINGDOM;

EID: 0030069335     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.1.82     Document Type: Article

References (8)

1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 1963;105:588-608.
2. Hennekam RCM, Stevens CA, Van de Kamp JJP. Aetiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl 1990;6:56-64.
3. Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet 1991;38:636-9.
4. Tommerup N, Hagen CB, van der Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34; p13.3). Cytogenet Cell Genet 1991;58:2002.
5. Lacombe D, Saura R, Taine L, Battin J. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet 1992;44:126-8.
6. Breuning MH, Dauwerse HG, Fugazza G, et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 1993;52:249-54.
7. Masuno M, Imaizumi K, Kurosawa K, et al. Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Am J Med Genet 1994;53:352-4.
8. Hennekam RCM, Tilanus M, Hamel BCM, et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet 1993;52:255-62.