Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Autor: Kanavakis Emanuel, Papadopoulou Eleftheria, Stylianidou Goula, Anastasiadou Violetta, Christodoulou Christodoulos, Ioannides Marios, Kitsiou-Tzeli Sofia, Sismani Carolina, Kosmaidou-Aravidou Zoe, Patsalis Philippos C

Publikováno v: Molecular Cytogenetics, Vol 1, Iss 1, p 15 (2008)

Abstract Background Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de novo and six famili

Externí odkaz: https://doaj.org/article/632b685e08df4f06977cb25fd950a5e1

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

Autor: Grigori, Panagiota, Panayiotou, Elena, Sismani, Carolina, Koumbaris, George, Ioannides, Marios, Costalos, Christos, Kosmaidou-Aravidou, Zoe, Kousoulidou, Ludmila, Patsalis, Philippos C.

Publikováno v: In European Journal of Medical Genetics May-June 2011 54(3):365-368

Prenatal diagnosis of a cervical teratoma with a cytogenetic study

Autor: Kosmaidou-Aravidou, Zoe Siabalioti, Georgia Karpathios, Sakelarios Grigori, Panagiota Panani, Anna

We describe a cervical teratoma revealed in the prenatal period that was studied cytogenetically. We were recently confronted with the case of a fetal solid neck mass suggestive of a teratoma. After termination of pregnancy the tumor was studied cyto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::264ec1c716f8b5f43cca459ea1a3d8e0
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3099709

Karyotype-Phenotype Correlation in Females with × Chromosome Abnormalities.

Autor: KOSMAIDOU-ARAVIDOU, ZOE

Publikováno v: Annals of the New York Academy of Sciences; 1997, Vol. 816 Issue 1, p373-377, 5p

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Autor: Aristidou C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Theodosiou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Papaevripidou I; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Evangelidou P; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Kosmaidou-Aravidou Z; Department of Genetics, Alexandra Hospital, 11528 Athens, Greece., Behjati F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713871, Iran., Christophidou-Anastasiadou V; Department of Clinical Genetics, Archbishop Makarios III Medical Centre, 2012 Nicosia, Cyprus.; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus., Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.

Publikováno v: Genes [Genes (Basel)] 2022 Dec 27; Vol. 14 (1). Date of Electronic Publication: 2022 Dec 27.