Literature DB >> 2063911

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

K Imaizumi1, Y Kuroki.   

Abstract

We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46,XX, t(2;16)(p13.3;p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3.

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Year:  1991        PMID： 2063911     DOI： 10.1002/ajmg.1320380430

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


  16 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.  Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Authors:  M H Breuning; H G Dauwerse; G Fugazza; J J Saris; L Spruit; H Wijnen; N Tommerup; C B van der Hagen; K Imaizumi; Y Kuroki; M J van den Boogaard; J M de Pater; E C Mariman; B C Hamel; H Himmelbauer; A M Frischauf; R Stallings; G C Beverstock; G J van Ommen; R C Hennekam
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Authors:  Oliver Bartsch; Sasan Rasi; Alicia Delicado; Sarah Dyack; Luitgard M Neumann; Eva Seemanová; Marianne Volleth; Thomas Haaf; Vera M Kalscheuer
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

6.  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

7.  Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function.

Authors:  Rakesh Krishna Kovela; Mohammad Irshad Qureshi; Ansar Manakandathil; Mukesh Kumar Sinha; Neethu Dinesh; Pallavi Harjpal
Journal:  Pan Afr Med J       Date:  2021-10-08

8.  Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.

Authors:  Leuridan Cavalcante Torres; Maria de Lourdes Lopes Chauffaille; Thomaz Pileggi Delboni; Thelma Suely Okay; Magda Carneiro-Sampaio; Sofia Sugayama
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

9.  A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation.

Authors:  Se Hee Kim; Byung Chan Lim; Jong Hee Chae; Ki Joong Kim; Yong Seung Hwang
Journal:  Korean J Pediatr       Date:  2010-06-23

Review 10.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors:  Silvia Spena; Cristina Gervasini; Donatella Milani
Journal:  J Pediatr Genet       Date:  2015-09-28
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