The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients-Reference-Cited by-同舟云学术

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Published:2012-10-17 Issue:6 Volume:21 Page:602-612
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Leroy Camille,Landais Emilie,Briault Sylvain,David Albert,Tassy Olivier,Gruchy Nicolas,Delobel Bruno,Grégoire Marie-José,Leheup Bruno,Taine Laurence,Lacombe Didier,Delrue Marie-Ange,Toutain Annick,Paubel Agathe,Mugneret Francine,Thauvin-Robinet Christel,Arpin Stéphanie,Le Caignec Cedric,Jonveaux Philippe,Beri Mylène,Leporrier Nathalie,Motte Jacques,Fiquet Caroline,Brichet Olivier,Mozelle-Nivoix Monique,Sabouraud Pascal,Golovkine Nathalie,Bednarek Nathalie,Gaillard Dominique,Doco-Fenzy Martine

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012230.pdf

Reference40 articles.

1. Balikova I, Vermeesch JR, Fryns JP, Van Esch H : Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10). Eur J Med Genet 2009; 52: 260–261.

2. Chen CP, Lin SP, Chern SR et al: Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features. Genet Couns 2010; 21: 263–267.

3. Cusco I, del Campo M, Vilardell M et al: Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet 2008; 9: 27.

4. Devillard F, Guinchat V, Moreno-De-Luca D et al: Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet A 2010; 152A: 2346–2354.

5. Felder B, Radlwimmer B, Benner A et al: FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A 2009; 149A: 952–959.

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