Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

Autor: Sifakis Stavros, Manolakos Emmanouil, Vetro Annalisa, Kappou Dimitra, Peitsidis Panagiotis, Kontodiou Maria, Garas Antonios, Vrachnis Nikolaos, Konstandinidou Anastasia, Zuffardi Orsetta, Orru Sandro, Papoulidis Ioannis

Publikováno v: Molecular Cytogenetics, Vol 5, Iss 1, p 12 (2012)

Abstract Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearra

Externí odkaz: https://doaj.org/article/b560f5780c8d4f479a51e78ec5f82ace

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Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.

Autor: Kontodiou, Maria, Daskalakis, Georgios, Vetro, annalisa, Paspaliaris, Vassilis, Papaioannou, Georgios, Dagklis, Themistoklis, Tsakiridis, Ioannis, Ziegler, Monika, Liehr, Thomas, Thomaidis, Loretta, Papoulidis, Ioannis, Manolakos, Emmanouil

Publikováno v: Cytogenetic & Genome Research; Mar2016, Vol. 147 Issue 2/3, p118-123, 6p, 2 Color Photographs, 1 Black and White Photograph, 1 Diagram, 1 Graph

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