Fritz Gerresheim

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R ett syndrome is an X linked mental retardation syndrome almost exclusively affecting girls, and has long been regarded as an X linked dominant condition lethal in hemizygous males. Mutations in the gene encoding the methyl-CpG binding protein 2 (MECP2) were demonstrated as the cause of Rett syndrome, and confirmed by a number of studies. The vast majority(More)
Dup(3q) syndrome is characterized by typical facial features, mental and growth retardation, often with congenital heart defects. The syndrome has attracted special attention because of the clinical overlap with Cornelia de Lange syndrome (CDLS). Patients with dup(3q) syndrome are trisomic for segments of the long arm of chromosome 3, most often within the(More)
Several pathways have been implicated in the etiology of the polycystic ovary syndrome (PCOS). The observation of familial aggregation of PCOS is consistent with a genetic component of this disorder. We report on a 21-year-old woman with menstrual irregularity, hirsutism, elevated serum androgen levels and polycystic ovarian morphology on ultrasonography,(More)
Three new observations of trisomy 8 mosaicism are presented. In two postnatal cases, both patients showed agenesis of corpus callosum associated with different clinical findings. In a third case, the prenatal diagnosis revealed trisomy 8 mosaicism exclusively in chorionic villi (CV) cells long term culture. Normal results were obtained in CV direct(More)
Like malignant fibrous histiocytoma (MFH), dedifferentiated liposarcoma represents a distinct subtype of liposarcoma and is characterized by an abrupt transition from well-differentiated liposarcoma (WDL) to highgrade dedifferentiated liposarcoma (DDL) . In addition, specific cytogenetic aberrations support the close biological relationship between WDL and(More)
A male newborn with severe congenital abnormalities is described with a de-novo translocation 16;21 resulting in trisomy 16q. Clinical features were consistent with trisomy 16q cases reported in the literature. Molecular analysis indicate a formation mechanism of the rearrangement restricted to postzygotic mitosis. Therefore, a low recurrence risk for the(More)
A mixed myxoid/round cell liposarcoma was macrodissected in its 2 histologic components and investigated for genetic differences between its low-grade myxoid and the high-grade round-cell region. For both, we failed to detect p53 gene mutations, loss of heterozygosity at the p53 or Rb genes, and p53 protein expression. The round-cell component showed a high(More)
Vorgestellt wird ein Kind mit den typischen Symptomen eines Cat-eye-Syndroms jedoch ohne das namengebende Leitsymptom der Katzenaugen. Eine Chromosomenanalyse (47,XX- + mar de novo) ergab den Nachweis eines Markerchromosoms. Durch In-situ-Hybridisierung konnte nachgewiesen werden, daß es sich bei dem vorliegenden Markerchromosom um Material vom Chromosom 22(More)
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