Article
Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.
American journal of medical genetics. Part A - 1 Nov 2008
Fernandez Thomas V, García-González I J, Mason Christopher E, Hernández-Zaragoza G, Ledezma-Rodríguez V C, Anguiano-Alvarez V M, E'Vega R, Gutiérrez-Angulo M, Maya M L, García-Bejarano H E, González-Cruz M, Barrios S, Atorga R, López-Cardona M G, Armendariz-Borunda J, State Matthew W, Dávalos Nory O
Abstract excerpt
3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome 3p26. We present a child patient with characteristic features of 3p deletion syndrome and a de novo unbalanced translocation involving chromosomes 3 and 13. Fine mapping of this...
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