Literature DB >> 1519642

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

D Lacombe1, R Saura, L Taine, J Battin.   

Abstract

A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

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Mesh：

Year:  1992        PMID： 1519642     DOI： 10.1002/ajmg.1320440134

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


  18 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.  Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Authors:  Gloria Negri; Pamela Magini; Donatella Milani; Milena Crippa; Elisa Biamino; Maria Piccione; Stefano Sotgiu; Chiara Perrìa; Giuseppina Vitiello; Marina Frontali; Antonella Boni; Elisabetta Di Fede; Maria Chiara Gandini; Elisa Adele Colombo; Michael J Bamshad; Deborah A Nickerson; Joshua D Smith; Italia Loddo; Palma Finelli; Marco Seri; Tommaso Pippucci; Lidia Larizza; Cristina Gervasini
Journal:  Hum Genet       Date:  2019-02-26       Impact factor: 4.132

3.  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

4.  Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology.

Authors:  Jane Waite; Joanna Moss; Sarah R Beck; Caroline Richards; Lisa Nelson; Kate Arron; Cheryl Burbidge; Katy Berg; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2015-05

Review 5.  Genetic syndromes caused by mutations in epigenetic genes.

Authors:  María Berdasco; Manel Esteller
Journal:  Hum Genet       Date:  2013-01-31       Impact factor: 4.132

Review 6.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

7.  A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Authors:  Hayley Crawford; Joanna Moss; Laura Groves; Robyn Dowlen; Lisa Nelson; Donna Reid; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2020-01

8.  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

9.  Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

Authors:  Cédric Galéra; Emmanuelle Taupiac; Sonia Fraisse; Sophie Naudion; Eva Toussaint; Caroline Rooryck-Thambo; Marie-Ange Delrue; Benoit Arveiler; Didier Lacombe; Manuel-Pierre Bouvard
Journal:  J Autism Dev Disord       Date:  2009-04-07

10.  A decline in the levels of progesterone receptor coactivators in the pregnant uterus at term may antagonize progesterone receptor function and contribute to the initiation of parturition.

Authors:  Jennifer C Condon; Pancharatnam Jeyasuria; Julie M Faust; James W Wilson; Carole R Mendelson
Journal:  Proc Natl Acad Sci U S A       Date:  2003-07-28       Impact factor: 11.205
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