Zoll, Barbara

[["dc.bibliographiccitation.firstpage","59"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","64"],["dc.bibliographiccitation.volume","137A"],["dc.contributor.author","von Beust, G."],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Stark, Holger"],["dc.contributor.author","von Eggeling, F."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:56:47Z"],["dc.date.available","2018-11-07T10:56:47Z"],["dc.date.issued","2005"],["dc.description.abstract","We report on a girl with mosaicism. (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with marker chromosome and quadruplicated in 5% thereof. Uniparental disomy (UPD) of the two normal sister chromosomes 7 was excluded. This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.30835"],["dc.identifier.isi","000231009900011"],["dc.identifier.pmid","16007665"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50099"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Molecular cytogenetic characterization of a De Novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","53"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","65"],["dc.bibliographiccitation.volume","83"],["dc.contributor.author","Shoukier, M."],["dc.contributor.author","Klein, Nadja"],["dc.contributor.author","Auber, B."],["dc.contributor.author","Wickert, J."],["dc.contributor.author","Schroeder, J."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, P."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Alsat, E. A."],["dc.contributor.author","Lingen, M."],["dc.contributor.author","Grzmil, P."],["dc.contributor.author","Schulze, S."],["dc.contributor.author","Keyser, J."],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Borchers, M."],["dc.contributor.author","Hobbiebrunken, E."],["dc.contributor.author","Roebl, M."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:48:19Z"],["dc.date.available","2017-09-07T11:48:19Z"],["dc.date.issued","2013"],["dc.description.abstract","Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype."],["dc.identifier.doi","10.1111/j.1399-0004.2012.01850.x"],["dc.identifier.gro","3142418"],["dc.identifier.isi","000312544000011"],["dc.identifier.pmid","22283495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8063"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0009-9163"],["dc.title","Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","58"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","64"],["dc.bibliographiccitation.volume","127A"],["dc.contributor.author","Meins, M."],["dc.contributor.author","Bohm, D."],["dc.contributor.author","Grossmann, A."],["dc.contributor.author","Herting, E."],["dc.contributor.author","Fleckenstein, B."],["dc.contributor.author","Fauth, C."],["dc.contributor.author","Speicher, M. R."],["dc.contributor.author","Schindler, R."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T10:48:56Z"],["dc.date.available","2018-11-07T10:48:56Z"],["dc.date.issued","2004"],["dc.description.abstract","Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an iso-pseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 pter)). The iso-pseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodi-centric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detect-ed in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child. (C) 2003 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.20644"],["dc.identifier.isi","000221179700012"],["dc.identifier.pmid","15103719"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48316"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0148-7299"],["dc.title","First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter -> q22.1 :: q22.1 -> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q-syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e62"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Meins, M."],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Motsch, S."],["dc.contributor.author","Trappe, Ralf"],["dc.contributor.author","Bartmus, D."],["dc.contributor.author","Langer, S."],["dc.contributor.author","Speicher, M. R."],["dc.contributor.author","Muhlendyck, H."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:39:17Z"],["dc.date.available","2018-11-07T10:39:17Z"],["dc.date.issued","2003"],["dc.identifier.doi","10.1136/jmg.40.5.e62"],["dc.identifier.isi","000182823500027"],["dc.identifier.pmid","12746416"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46008"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","British Med Journal Publ Group"],["dc.relation.issn","0022-2593"],["dc.title","Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","81"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","AMERICAN JOURNAL OF MEDICAL GENETICS"],["dc.bibliographiccitation.lastpage","85"],["dc.bibliographiccitation.volume","102"],["dc.contributor.author","Reinehr, Thomas"],["dc.contributor.author","Jauch, A."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Engel, Ulrike"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Andler, W."],["dc.date.accessioned","2018-11-07T08:51:40Z"],["dc.date.available","2018-11-07T08:51:40Z"],["dc.date.issued","2001"],["dc.description.abstract","Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Leri-Weill syndrome. We report on a 10-2/12-year-old girl and her 37-year-old mother with short stature and no other phenotypic symptoms. In the daugther, additional chromosome material was detected in the pseudoautosomal region of one X chromosome (46,X,add (Xp.22.3)) by chromosome banding analysis. The elongation of the X chromosome consisted of Giemsa dark and bright bands with a length one-fifth of the size of Xp. The karyotype of the mother demonstrated chromosome mosaicism with three cell lines (46,X,add(X)(p22.3) [89]; 45,X [8]; and 47,X, add(X)(p22.3), add(X)(p22.3) [2]). In both daughter and mother, fluorescence in situ hybridization (FISH), together with data from G banding, identified the breakpoints in Xp22.1-3 and Xq26, resulting in a partial trisomy of the terminal region of Xq (Xq26-qter) and a monosomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the proximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Kallmann syndrome region. The derivative X chromosome was defined as ish.der (X)t (X;X)(p22.1-3;q26)(yWXD2540-, F20cos-, STS-, 60C10-, 959D10-, 2771+, cos9++). In daughter and mother, the monosomy of region Xp22.1-3 is compatible with fertility and does not cause any other somatic stigmata of the Turner syndrome or Leri-Weill syndrome, except for short stature due to monosomy of the SHOX gene. (C) 2001 Wiley-Liss, Inc. (C) 2001Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/1096-8628(20010722)102:1<81::AID-AJMG1375>3.0.CO;2-V"],["dc.identifier.isi","000169706400015"],["dc.identifier.pmid","11471178"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21990"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0148-7299"],["dc.title","Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","8"],["dc.bibliographiccitation.volume","98"],["dc.contributor.author","Trappe, Ralf"],["dc.contributor.author","Bohm, D."],["dc.contributor.author","Kohlhase, Juergen"],["dc.contributor.author","Weise, A."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Essers, G."],["dc.contributor.author","Meins, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T10:32:57Z"],["dc.date.available","2018-11-07T10:32:57Z"],["dc.date.issued","2002"],["dc.description.abstract","In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers Could be explained by unbalanced translocation-bearing spermatozoa found with a frequency of approximately 55% in the entire sperm population of a t(2;20)(p24.1;q13.1) carrier. These imbalanced spermatozoa mainly present as 2, der(20) and der(2), 20 missegregated (approximately 46%) while adjacent 2 and 3:1 segregation patterns account for approximately 5% and 4% of imbalances, respectively. While the translocation is associated clearly with an increased risk of early abortions (7/12) in both male and female carriers, no malformed livebirths were observed. Our results suggest complete embryonic lethality of imbalanced offspring. With respect to a high rate of segregation to 2, der(20) and to der(2), 20 imbalanced spermatozoa in male translocation carriers and with respect to known cases of partial trisomy 2p and 20q we consider that their corresponding monosomies result in fetal loss. This is the First study reporting multiple abortions associated with partial monosomy 20q13.1 --> qter and 2pter --> p24.1 and the First report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote. Copyright (C) 2002 S. Karger AG, Basel."],["dc.identifier.doi","10.1159/000068533"],["dc.identifier.isi","000181318500001"],["dc.identifier.pmid","12584434"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/44481"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","1424-8581"],["dc.title","A novel family-specific translocation t(2;20)(p24.1;q 13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","67"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","GENETIC COUNSELING"],["dc.bibliographiccitation.lastpage","74"],["dc.bibliographiccitation.volume","14"],["dc.contributor.author","von Beust, G."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:42:26Z"],["dc.date.available","2018-11-07T10:42:26Z"],["dc.date.issued","2003"],["dc.description.abstract","A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism: We report on a case of prenatally diagnosed true trisomy 20 mosaicism in amniocytes. Cytogenetic analysis was performed postnatally on lymphocytes and extra-embryonic tissues. For analysing uroepithelial cells we established a new cell nuclei preparation protocol for FISH (Fluorescence In Situ Hybridization). Trisomy 20 cells could not be confirmed after birth. The origin of trisomy 20 cells in amniotic fluid remains unclear. The phenotypically normal male baby is developing normal."],["dc.identifier.isi","000182083100008"],["dc.identifier.pmid","12725591"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46798"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Medecine Et Hygiene"],["dc.relation.issn","1015-8146"],["dc.title","A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","207"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","GENETIC COUNSELING"],["dc.bibliographiccitation.lastpage","212"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Wessel, Alok D."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Laccone, Franco A."],["dc.date.accessioned","2018-11-07T10:52:34Z"],["dc.date.available","2018-11-07T10:52:34Z"],["dc.date.issued","2004"],["dc.description.abstract","Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy. Later, she developed distinctive features of RETT syndrome including loss of early acquired developmental skills and presented typical symptoms of RETT syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth. Molecular analysis of the MECP2 gene revealed the c.808T>C (R270X) mutation located in the nuclear localisation signal sequence of the gene. Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease."],["dc.identifier.isi","000222686500008"],["dc.identifier.pmid","15287421"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49142"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Medecine Et Hygiene"],["dc.relation.issn","1015-8146"],["dc.title","Fetal alcohol syndrome in association with Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]