Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

Autor: Rongen Michel A, Hilkmann José TW, Stoevelaar Gerda HT, van Dooren Marieke F, Simon Marleen EH, de Vree Paula JP, Huijbregts Gido CM, Verkerk Annemieke JMH, Poddighe Pino J

Publikováno v: Molecular Cytogenetics, Vol 2, Iss 1, p 15 (2009)

Abstract Background Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genoty

Externí odkaz: https://doaj.org/article/27dd94967a294227b6d5d8e8c362bf73

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Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.

Autor: Govaerts L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Srebniak M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Riedijk S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knapen M; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.; Foundation Prenatal Screening Southwest region of the Netherlands, Rotterdam, The Netherlands., Go A; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands., Papatsonis D; Department of Obstetrics and Gynecology, Amphia Hospital, Breda, The Netherlands., de Graaf K; Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, The Netherlands., Toolenaar T; Department of Gynecology, Albert Schweitzer Hospital Dordrecht, Dordrecht, The Netherlands., van der Steen S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Huijbregts G; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., de Vries F; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2017 Jan; Vol. 37 (1), pp. 73-80. Date of Electronic Publication: 2016 Dec 29.