Search Results - "Kelbova, Christina"

Chromosome deletions in 13q33-34: Report of four patients and review of the literature by Walczak-Sztulpa, Joanna, Wisniewska, Marzena, Latos-Bielenska, Anna, Linné, Maja, Kelbova, Christina, Belitz, Britta, Pfeiffer, Lutz, Kalscheuer, Vera, Erdogan, Fikret, Kuss, Andreas W., Ropers, Hans-Hilger, Ullmann, Reinhard, Tzschach, Andreas

“…Deletions of chromosome bands 13q33–34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male…”
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New cytogenetically visible copy number variant in region 8q21.2 by Manvelyan, Marina, Cremer, Friedrich W, Lancé, Jeannette, Kläs, Rüdiger, Kelbova, Christina, Ramel, Christian, Reichenbach, Herbert, Schmidt, Catharina, Ewers, Elisabeth, Kreskowski, Katharina, Ziegler, Monika, Kosyakova, Nadezda, Liehr, Thomas

“…Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few…”
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Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature by Manvelyan, Marina, Riegel, Mariluce, Santos, Monica, Fuster, Carme, Pellestor, Franck, Mazaurik, Marie-Luise, Schulze, Bernt, Polityko, Anna, Tittelbach, Hanne, Reising-Ackermann, Gisela, Belitz, Britta, Hehr, Ute, Kelbova, Christina, Volleth, Marianne, Gödde, Elisabeth, Anderson, Jasen, Küpferling, Peter, Köhler, Sigrid, Duba, Hans-Christoph, Dufke, Andreas, Aktas, Dilek, Martin, Thomas, Schreyer, Isolde, Ewers, Elisabeth, Reich, Daniela, Mrasek, Kristin, Weise, Anja, Liehr, Thomas

“…Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were…”
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De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations by YING YUE, FARCAS, Ruxandra, HAAF, Thomas, THIEL, Gundula, BOMMER, Christiane, GROSSMANN, Bärbel, GALETZKA, Danuta, KELBOVA, Christina, KÜPFERLING, Peter, DASER, Angelika, ZECHNER, Ulrich

“…A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3)…”
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) by Tzschach, Andreas, Kelbova, Christina, Weidensee, Sabine, Peters, Hartmut, Ropers, Hans-Hilger, Ullmann, Reinhard, Erdogan, Fikret, Jurkatis, Jan, Menzel, Corinna, Kalscheuer, Vera, Demuth, Stephanie

“…We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced…”
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Interstitial deletion of chromosome 6q : precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting by RUBTSOV, N, SENGER, G, KUZCERA, H, NEUMANN, A, KELBOVA, C, JUNKER, K, BEENSEN, V, CLAUSEN, U

“…Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal deletion of 6q in a 14-week-old boy with developmental retardation, facial…”
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A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature by SEIDEL, Jörg, HELLER, Anita, ZINTL, Felix, CLAUSSEN, Uwe, LIEHR, Thomas, SENGER, Gabriele, STARKE, Heike, CHUDOBA, Ilse, KELBOVA, Christina, TÖNNIES, Holger, NEITZEL, Heidemarie, HAASE, Claudia, BEENSEN, Volkmar

“…We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial…”
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