Article
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
American journal of medical genetics. Part A - 1 Sept 2017
Jehee Fernanda S, de Oliveira Valdirene T, Gurgel-Giannetti Juliana, Pietra Rafaella X, Rubatino Fernando V M, Carobin Natália V, Vianna Gabrielle S, de Freitas Mariana L, Fernandes Karla S, Ribeiro Beatriz S V, Brüggenwirth Hennie T, Ali-Amin Roza, White Janson J, Akdemir Zeynep C, Jhangiani Shalini N, Gibbs Richard A, Lupski James R, Varela Monica C, Koiffmann Célia, Rosenberg Carla, Carvalho Cláudia M B
Abstract excerpt
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the...
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