Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

W M van Bon, B; C Mefford, H; Menten, B; A Koolen, D; J Sharp, A; M Nillesen, W; W Innis, J; J L de Ravel, T; L Mercer, C; Fichera, M; Stewart, H; E Connell, L; Ounap, K; Lachlan, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; A Nobrega, M; Serra-Juhé, C; Simonic, I; de Leeuw, N; Pfundt, R; M Bongers, E; Baker, C; Finnemore, P; Huang, S; K Maloney, V; A Crolla, J; van Kalmthout, M; Elia, M; Vandeweyer, G; P Fryns, J; Janssens, S; Foulds, N; Reitano, S; Smith, K; Parkel, S; Loeys, B; G Woods, C; Oostra, A; Speleman, F; C Pereira, A; Kurg, A; Willatt, L; J L Knight, S; R Vermeesch, J; Romano, C; C Barber, J; Mortier, G; A Pérez-Jurado, L

doi:10.1136/jmg.2008.063412

Public

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Shared by NobleBlocks on Aug 1, 2009 • 12:00 AM UTC

Authors:

B W M van Bon

H C Mefford

B Menten

Abstract

BACKGROUND: Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. METHODS: To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18...

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!