Characterization of a recurrent 15q24 microdeletion syndrome.
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High-resolution analysis showed that in three patients both proximal and distal breakpoints co-localized to highly identical segmental duplications (>51 kb...
Prif Awduron: | Sharp, A, Selzer, R, Veltman, J, Gimelli, S, Gimelli, G, Striano, P, Coppola, A, Regan, R, Price, S, Knoers, N, Eis, P, Brunner, H, Hennekam, R, Knight, S, de Vries, B, Zuffardi, O, Eichler, E |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2007
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Eitemau Tebyg
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