Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Authors :: Mefford, H.
Sharp, A.
Baker, C.
Itsara, A.
Jiang, Z.
Huang, S.
de Ravel, T.
Norga, K.
Mercer, C.
Collins, A.
Baralle, D.
Crolia, J.
Maloney, V.
Devriendt, K.
Bongers, E.
de Leeuw, N.
Reardon, W.
Gimelli, S.
Bena, F.
Mehta, S.
Park, S.
Simonic, I.
Clayton-Smoth, J.
Gaunt, L.
Male, A.
Hennekam, R.
Nik-Zainal, S.
Woods, C.
Firth, H.
Parkin, G.
Fichera, M.
Reitano, S.
Schwerzmann, M.
Conrad, B.
Broomer, A.
Casuga, I.
Li, K.
Lo Guidice, M.
Source :: The New England Journal of Medicine. Oct 16, 2008, Vol. 359 Issue 16, p1685, 15 p.
Publication Year :: 2008
Abstract: A study was conducted to determine the effects of duplications or deletions in the human genome that could be a cause or predispose an individual to disease. Results revealed that recurrent molecular lesions when noticed should be further investigated on the basis of genotype rather than phenotype.

Subjects :: Human chromosomes -- Research
Human genome -- Research
Human genome -- Health aspects
Phenotype -- Research

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