A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable cl...

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Bibliografski detalji
Glavni autori: Koolen, D, Vissers, L, Pfundt, R, de Leeuw, N, Knight, S, Regan, R, Kooy, R, Reyniers, E, Romano, C, Fichera, M, Schinzel, A, Baumer, A, Anderlid, B, Schoumans, J, Knoers, N, van Kessel, A, Sistermans, E, Veltman, J, Brunner, H, de Vries, B
Format: Journal article
Jezik:English
Izdano: 2006

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