Research Topics
| O BartschSummaryAffiliation: University of Mainz Country: Germany Publications
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Publications
Two complementary recombinant chromosomes 5 in a healthy womanO Bartsch
Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany
Cytogenet Genome Res 114:178-82. 2006..This is the first report known to us of complementation by two non-homologous recombinant chromosomes in a phenotypically normal woman, and the first example of a child born to a carrier of complementary recombinant chromosomes...- Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch
Institute for Human Genetics, Mainz University School of Medicine, 55101, Mainz, Germany
Hum Genet 120:179-86. 2006..Further studies are needed to delineate the clinical spectrum of the new disorder and to clarify the role of DNASE1... - FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)Oliver Bartsch
Institute for Human Genetics, Mainz University School of Medicine, Mainz, Germany
Eur J Hum Genet 13:592-8. 2005..In this study, we found six distinct intervals on 22q to be relevant for FISH diagnostics. We propose to characterize SMCs(22) using DNA probes corresponding to these intervals... - Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosisO Bartsch
Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany
Cytogenet Genome Res 119:158-64. 2007..Most likely the 7qter trisomy and the 17q11.2 microdeletion coincide by chance in our patient... - DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTSOliver Bartsch
Institut fur Humangenetik, Klinikum, Universitat Mainz, 55101, Mainz, Germany
Hum Genet 117:485-93. 2005.... - Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studiesOliver Bartsch
Institute for Human Genetics, Mainz University School of Medicine, Mainz, Germany
Eur J Hum Genet 13:1192-204. 2005..Findings illustrate the spectrum and clinical outcomes of prenatally diagnosed SMCs, and indicate a higher frequency of SMCs than generally assumed... 
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndromeOliver Bartsch
Institut fur Humangenetik, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Langenbeckstrasse 1, D 55131 Mainz, Germany
Am J Med Genet A 152:181-4. 2010....- Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch
Institut fur Humangenetik, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Mainz, Germany
Am J Med Genet A 152:305-12. 2010..Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures... - Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndromeOliver Bartsch
Johannes Gutenberg University Mainz, Institute of Human Genetics, Mainz, Germany
Am J Med Genet A 152:2099-102. 2010..This patient showed a developmental catch-up following the liver transplantation, possibly suggesting that chronic hepatic disease could contribute to the developmental delay in a subset of these patients... - Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotypeU Zechner
Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany
Clin Genet 75:251-8. 2009..Evidently, the upd(14)mat-like clinical phenotype is caused by an epimutation at 14q32.2. The clinical and molecular features of this novel case are discussed with respect to the recently published cases... - Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qterM Tchirikov
Department of Obstetrics and Fetal Medicine, University Medical Center Mainz, Mainz, Germany
Am J Med Genet A 152:721-5. 2010..Invasive prenatal diagnosis must be offered to the parents... - Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing lossN Damatova
Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany
Cytogenet Genome Res 125:241-7. 2009..This observation may prove useful for prenatal diagnosis and genetic counselling of chromosome 22q11.1 gains and losses... - GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methodsO Bartsch
Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
Audiol Neurootol 15:375-82. 2010..7%) presenting with only one GJB2 mutation (n = 14 T/wild-type; n = 15 NT/wild-type). This strongly suggests the presence of additional recessive mutations that are not detected by current GJB2 mutation and GJB6 deletion analyses... - Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of XpK Kutsche
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Cytogenet Genome Res 99:297-302. 2002.... 
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube DefectsO Bartsch
Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
Mol Syndromol 3:76-81. 2012..Arg173His, p.Arg186His, p.Gly205Arg) modified conserved regions of the VANGL1 protein and shared similarities with previously described mutants, providing further evidence for the presence of mutational hot spots in these patients...- Unexpected death of a 12 year old boy with monosomy 1p36L M Neumann
Institute of Human Genetics, Charite Campus Virchow Klinikum, 13353 Berlin, Germany
Genet Couns 15:19-26. 2004..To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36... - Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delayJörg Weimer
Clinic of Gynecology and Obstetrics, University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Am J Med Genet A 140:488-95. 2006..We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features... - Healthy 12-year-old boy with mosaic inv dup(15)(q13)Anne Loitzsch
Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany
Am J Med Genet A 140:640-3. 2006 - Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular faceThomas Eggermann
Institute of Human Genetics, University Hospital Aachen, Germany
Clin Dysmorphol 15:9-12. 2006.... - A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21Katrin Ounap
Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia
Am J Med Genet A 137:323-7. 2005..2) and D2S2023 (chromosome 2q14.2), or alternatively the presence of a locus for CPO and Pierre Robin sequence on chromosome 2q13-q21... - Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl
Children s Hospital, Technical University, Dresden, Germany
Hum Mutat 26:279-80. 2005..Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea... - Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?Dagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
Am J Med Genet A 120:429-33. 2003..The combination of deletion 18p/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face... - Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studiesDaniela Ehling
Praenadia GmbH, Muenster, Germany
Am J Med Genet A 131:265-72. 2004..9 Mb of 21q, may result in mild phenotypes comprising facial anomalies, thin marfanoid build, and mild MR, with or without signs of holoprosencephaly... - Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qterKatrin Ounap
Medical Genetic Center, Tartu University Clinics, Tartu, Estonia
Am J Med Genet 108:322-6. 2002..We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient... - Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 12:400-6. 2004..In addition fluorescence in situ hybridisation and molecular analysis were performed to gain further insight in potential candidate genes involved in P11pDS... - Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14Cristina Skrypnyk
Institute of Clinical Genetics, Dresden University of Technology, Fetscherstrasse 74, D-01307 Dresden, Germany
Am J Med Genet A 124:397-401. 2004..The deletion spans at least 370-420 kb in size and is predicted to include proximal and distal neighbor genes. This report may assist in establishing the clinical signs of the contiguous gene syndrome at the RB1 locus on 13q14... - Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava
University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
Clin Dysmorphol 12:123-7. 2003..Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome... - Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn
Institute of Human Genetics, Charite, Humboldt University, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Med Genet A 117:236-44. 2003..Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics... - DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionOliver Bartsch
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany
Am J Med Genet A 117:1-5. 2003..This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding... - Two new cases of analphoid marker chromosomesMiriam Spiegel
, , Dresden, Germany
Am J Med Genet A 116:284-9. 2003..Case 2 represents the ninth report of a neocentromere on distal chromosome 15q, suggesting that this region may possibly especially support the formation of neocentromeres... - Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3Denise Horn
Institute of Human Genetics, Charite, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Med Genet A 128:85-92. 2004..Our results stress the importance of 7q36 deletion studies by FISH in patients with microsigns of the HPE spectrum... - Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter
Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany
Am J Med Genet A 128:364-73. 2004..Three within the subset of 16 children (18.8%) with mild (IQ, 50-69) or unspecified degree of MR tested positive, suggesting that the checklist approach could be especially useful within this group of patients... - Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomaliesCristina Skrypnyk
Institute of Clinical Genetics, Technical University, Dresden, Germany
Am J Med Genet 113:207-12. 2002..The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion... - Two sisters with Silver-Russell phenotypeKatrin Ounap
Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu 51005, Estonia
Am J Med Genet A 131:301-6. 2004..The recurrence in sibs could be caused by a mutation in the imprinted gene or imprinting center carried by one parent. Alternatively, recurrence in sibs could represent germ line mosaicism for a dominant mutation in one of the parents... - Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomaliesMehmet Ali Ergun
Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 46:384-7. 2004..The patient's face resembled the peculiar face in previously reported cases of 8q23-qter duplication. This report supports that critical gene(s) for cardiac septum formation reside on distal chromosome 8q... - A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndromeKatrin Ounap
Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia
Am J Med Genet A 134:434-8. 2005..Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS... - A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenailsSevim Balci
Department of Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children s Hospital, Turkey
Pediatr Dermatol 21:44-7. 2004..We report a patient with characteristic manifestations of RTS and congenital malalignment of the great toenails. The association of these two entities has not been reported previously... - Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case reportSevim Balci
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 50:265-8. 2008..It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field... - Two novel deletions (array CGH findings) in pigment dispersion syndromeRuth Mikelsaar
Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia
Ophthalmic Genet 28:216-9. 2007..We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1)... - Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndromeNicole Zimmermann
Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany
Eur J Hum Genet 15:837-42. 2007.... - Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally representedEve Oiglane-Shlik
Department of Pediatrics, University of Tartu, Tartu, Estonia
Am J Med Genet A 140:1936-43. 2006..Our results showing the birth prevalence of AS 1.7 times less than PWS challenge the opinion that both syndromes are equally represented, and are in line with the view that mutations in sperm and oocytes occur at different frequencies... - Tuberous sclerosis and polycystic kidney disease in a 3-month-old infantMartin W Laass
Department of Pediatrics, University Hospital, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany
Pediatr Nephrol 19:602-8. 2004..3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome... - Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populationsGuanshan Zhu
Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD 20892, USA
Eur J Hum Genet 12:505-8. 2004..We could not find any cell line showing a result consistent with DUP25. These data do not support any association of DUP25 with panic disorder... - The neonatal phenotype of Prader-Willi syndromeEve Oiglane-Shlik
Am J Med Genet A 140:1241-4. 2006 - cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Gene 332:119-27. 2004..This complex is involved in transcriptional regulation and is believed to serve as adapting interface between regulatory proteins bound to specific DNA sequences and RNA polymerase II... - Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysisAnja Matthaei
Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany
Eur J Med Genet 48:328-38. 2005..Possibly more relevant is an overlap of the 16q12 deletion/insertion with a small deletion of the syntenic chromosomal region in the mouse that causes a developmental disorder of digits ("Fused toes")... - A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesisClaudia Backsch
, Abteilung Frauenheilkunde, , Germany
Genes Chromosomes Cancer 43:260-72. 2005....