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Adult expression of a 3q13.31 microdeletion

  • Published:2014-03-20 Issue:1 Volume:7 Page:
  • ISSN:1755-8166
  • Container-title:Molecular Cytogenetics
  • language:en
  • Short-container-title:Mol Cytogenet

Author:

Lowther Chelsea,Costain Gregory,Melvin Rebecca,Stavropoulos Dimitri J,Lionel Anath C,Marshall Christian R,Scherer Stephen W,Bassett Anne S

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference30 articles.

1. Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsboro Darling L, Rosenberg C, Sa J, et al.: A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet 2012,49(2):104–109. 10.1136/jmedgenet-2011-100534

2. Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochi D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA: Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat 2013,34(10):1415–1423. 10.1002/humu.22384

3. Gimelli S, Leoni M, Di Rocco M, Caridi G, Porta S, Cuoco C, Gimelli G, Tassano E: A rare 3q13.31 microdeletion including GAP43 and LSAMP genes. Mol Cytogenet 2013,6(1):52. 10.1186/1755-8166-6-52

4. Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C: Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication. Mol Genet Metab 2013,110(1–2):90–97.

5. Shimojima K, Saito K, Yamamoto T: A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. Am J Med Genet A 2009,149A(8):1818–1822. 10.1002/ajmg.a.32963

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