The Experts below are selected from a list of 6762 Experts worldwide ranked by ideXlab platform
Koenraad Devriendt - One of the best experts on this subject based on the ideXlab platform.
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Ring syndrome caused by Ring Chromosome 7 without loss of subtelomeric sequences
Clinical Genetics, 2002Co-Authors: Joris Vermeesch, Jean-pierre Fryns, E Baten, Koenraad DevriendtAbstract:Ring Chromosome 7 is an unusual Chromosome anomaly. Here we describe a patient with Ring Chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'Ring syndrome'. This report helps to further delineate the clinical manifestations of 'Ring syndrome' and to distinguish the phenotypic consequences of the presence of a Ring Chromosome 7 from the phenotypic consequences of terminal Chromosome 7 submicroscopic deletions.
Joris Vermeesch - One of the best experts on this subject based on the ideXlab platform.
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Pathogenesis of vestibular schwannoma in Ring Chromosome 22
BMC Medical Genetics, 2009Co-Authors: Ellen Denayer, Hilde Brems, Paul De Cock, Gareth Evans, Frank Van Calenbergh, Naomi L. Bowers, Raphael Sciot, Maria Debiec-rychter, Joris Vermeesch, Jean-pierre FrynsAbstract:Background Ring Chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with Ring Chromosome 22. The pathogenesis of these tumours is not always clear yet.
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Ring syndrome caused by Ring Chromosome 7 without loss of subtelomeric sequences
Clinical Genetics, 2002Co-Authors: Joris Vermeesch, Jean-pierre Fryns, E Baten, Koenraad DevriendtAbstract:Ring Chromosome 7 is an unusual Chromosome anomaly. Here we describe a patient with Ring Chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'Ring syndrome'. This report helps to further delineate the clinical manifestations of 'Ring syndrome' and to distinguish the phenotypic consequences of the presence of a Ring Chromosome 7 from the phenotypic consequences of terminal Chromosome 7 submicroscopic deletions.
Jean-pierre Fryns - One of the best experts on this subject based on the ideXlab platform.
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Pathogenesis of vestibular schwannoma in Ring Chromosome 22
BMC Medical Genetics, 2009Co-Authors: Ellen Denayer, Hilde Brems, Paul De Cock, Gareth Evans, Frank Van Calenbergh, Naomi L. Bowers, Raphael Sciot, Maria Debiec-rychter, Joris Vermeesch, Jean-pierre FrynsAbstract:Background Ring Chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with Ring Chromosome 22. The pathogenesis of these tumours is not always clear yet.
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Ring syndrome caused by Ring Chromosome 7 without loss of subtelomeric sequences
Clinical Genetics, 2002Co-Authors: Joris Vermeesch, Jean-pierre Fryns, E Baten, Koenraad DevriendtAbstract:Ring Chromosome 7 is an unusual Chromosome anomaly. Here we describe a patient with Ring Chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'Ring syndrome'. This report helps to further delineate the clinical manifestations of 'Ring syndrome' and to distinguish the phenotypic consequences of the presence of a Ring Chromosome 7 from the phenotypic consequences of terminal Chromosome 7 submicroscopic deletions.
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Transmission of Ring Chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and Ring Chromosome 18 syndrome in her son.
Annales De Genetique, 1992Co-Authors: Jean-pierre Fryns, Eric Smeets, A. Kleczkowska, Hanne Van Den BergheAbstract:: Inheritance of Ring Chromosomes is reported infrequently. The authors report on a phenotypically and mentally normal mother with Ring Chromosome 18 mosaic with a normal cell line and her polymalformed son with non-mosaic 46,XY,r(18) karyotype.
E Baten - One of the best experts on this subject based on the ideXlab platform.
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Ring syndrome caused by Ring Chromosome 7 without loss of subtelomeric sequences
Clinical Genetics, 2002Co-Authors: Joris Vermeesch, Jean-pierre Fryns, E Baten, Koenraad DevriendtAbstract:Ring Chromosome 7 is an unusual Chromosome anomaly. Here we describe a patient with Ring Chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'Ring syndrome'. This report helps to further delineate the clinical manifestations of 'Ring syndrome' and to distinguish the phenotypic consequences of the presence of a Ring Chromosome 7 from the phenotypic consequences of terminal Chromosome 7 submicroscopic deletions.
Yukitoshi Takahashi - One of the best experts on this subject based on the ideXlab platform.
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Ring Chromosome 20 and nonconvulsive status epilepticus a new epileptic syndrome
Brain, 1997Co-Authors: Yushi Inoue, Tateki Fujiwara, K Matsuda, Hidemoto Kubota, M Tanaka, Kazuichi Yagi, K Yamamori, Yukitoshi TakahashiAbstract:Six cases of epilepsy associated with Ring Chromosome 20 are presented. The study of these cases and 20 cases reported in the literature revealed that they constitute a distinct epileptic syndrome: frequent seizures consisting of a prolonged confusional state, with or without additional motor seizures, and an ictal EEG pattern of long-lasting bilateral paroxysmal high-voltage slow waves with occasional spikes. Neurological examination results were normal, and neuroimaging studies often failed to disclose a brain lesion. The seizures were resistant to antiepileptic drug therapy. Comparison of the electroclinical features of nonconvulsive status epilepticus in six patients with and four patients without Ring Chromosome 20 revealed that the group with the chromosomal anomaly had more frequent, comparatively brief episodes of confusion associated with a less prominent spike component on the EEG. We propose that epilepsy associated with Ring Chromosome 20 constitutes a new syndrome that may provide an opportunity to scrutinize a genetic mechanism of epilepsy.
