Zoll, Barbara

[["dc.bibliographiccitation.artnumber","10"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Bruemmer, Verena"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Boehm, Detlef"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2018-11-07T08:35:08Z"],["dc.date.available","2018-11-07T08:35:08Z"],["dc.date.issued","2009"],["dc.description.abstract","Background: Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing. Results: 296 patients with MR and a normal karyotype (500-550 bands) were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8%) with 20 subtelomeric imbalances were identified. Six of the aberrations (2%) were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases) or the aberration were be detected in the patient and an equally affected parent (1 case). The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs) were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%). Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort."],["dc.identifier.doi","10.1186/1755-8166-2-10"],["dc.identifier.isi","000208460900009"],["dc.identifier.pmid","19284615"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/5765"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17987"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","65"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","70"],["dc.bibliographiccitation.volume","139"],["dc.contributor.author","Schmidt, T."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Shoukier, Moneef"],["dc.date.accessioned","2018-11-07T09:30:55Z"],["dc.date.available","2018-11-07T09:30:55Z"],["dc.date.issued","2013"],["dc.description.abstract","Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner. One of the 2 older half-brothers of the index patient was intellectually disabled and showed short stature as well. The mother of the siblings was only 149 cm in height. The affected half-brother as well as the mother of the siblings were tested positive for the same duplication. Duplications of the long arm of chromosome 5 are rare. There are 16 reported cases of different 5q segments with a pure duplication and no additional chromosomal imbalance. In order to refine the 5q-duplication phenotype, reported cases were recently classified in 3 groups on the basis of clinical findings and the involved chromosome segments. However, our case does not fit in any of these groups but is placed in the interjacent chromosomal area between 2 of these groups. Overall, this is the second reported family with a duplication of 5q22.1q23.2 and both families share phenotypic features like short stature, facial dysmorphic signs and speech delay. The reported family provides further information for delineating phenotype-genotype correlations of pure duplications of the 5q region. Copyright (C) 2012 S. Karger AG, Basel"],["dc.identifier.doi","10.1159/000342914"],["dc.identifier.isi","000312004200010"],["dc.identifier.pmid","23051634"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9489"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31425"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Karger"],["dc.relation.issn","1424-8581"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A Family with an Inverted Tandem Duplication 5q22.1q23.2"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","7"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Kuester, Helmut"],["dc.contributor.author","Lorenz, Michael"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Adam, Ronja"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T09:45:02Z"],["dc.date.available","2018-11-07T09:45:02Z"],["dc.date.issued","2014"],["dc.description.abstract","Reported cases of \"pure\" duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by array CGH and fluorescence in situ hybridization. This baby girl presented with clinical symptoms characteristic of patients with duplications of the short arm of chromosome 16: psychomotor retardation, constitutional growth delay and specific dysmorphic features, including proximally placed hypoplastic thumbs. In addition, she exhibited evidence of neonatal hemochromatosis as shown by direct hyperbilirubinemia, iron overload and elevated liver enzyme levels. To our knowledge, this is the first report of signs of neonatal hemochromatosis in a patient with 16p duplication."],["dc.identifier.doi","10.1186/1755-8166-7-7"],["dc.identifier.isi","000331553800001"],["dc.identifier.pmid","24456940"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9752"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34529"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["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","2832"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","2837"],["dc.bibliographiccitation.volume","149A"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Backes, Heiko"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Kriebel, Thomas"],["dc.contributor.author","Stellmer, Franziska"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T11:21:13Z"],["dc.date.available","2018-11-07T11:21:13Z"],["dc.date.issued","2009"],["dc.description.abstract","The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition. (C) 2009 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.33111"],["dc.identifier.isi","000272535000032"],["dc.identifier.pmid","19938094"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55722"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1204"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","British Journal of Dermatology"],["dc.bibliographiccitation.lastpage","1207"],["dc.bibliographiccitation.volume","142"],["dc.contributor.author","Schauder, Silvia"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Noske, U. M."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:46:19Z"],["dc.date.available","2018-11-07T10:46:19Z"],["dc.date.issued","2000"],["dc.description.abstract","The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes."],["dc.identifier.doi","10.1046/j.1365-2133.2000.03551.x"],["dc.identifier.isi","000088011700022"],["dc.identifier.pmid","10848748"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/47717"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Science Ltd"],["dc.relation.issn","0007-0963"],["dc.title","Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","229"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","235"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Wickert, Julia"],["dc.contributor.author","Schroeder, Julia"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Salinas-Riester, Gabriela"],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T09:15:51Z"],["dc.date.available","2018-11-07T09:15:51Z"],["dc.date.issued","2012"],["dc.description.abstract","Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies. (C) 2011 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.34387"],["dc.identifier.isi","000299381800033"],["dc.identifier.pmid","22140031"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27800"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1552-4825"],["dc.title","A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect"],["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.artnumber","74"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Winter, Lorenz"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T09:33:25Z"],["dc.date.available","2018-11-07T09:33:25Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34. Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1. Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome."],["dc.identifier.doi","10.1186/s13039-014-0074-7"],["dc.identifier.isi","000344120100001"],["dc.identifier.pmid","25349628"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31961"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Intragenic duplication of EHMT1 gene results in Kleefstra syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","121"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","123"],["dc.bibliographiccitation.volume","132"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Ewers, E."],["dc.contributor.author","Mrasek, K."],["dc.contributor.author","Kosyakova, N."],["dc.contributor.author","Merkas, M."],["dc.contributor.author","Hamid, A. B."],["dc.contributor.author","von Eggeling, F."],["dc.contributor.author","Posorski, N."],["dc.contributor.author","Weise, A."],["dc.date.accessioned","2018-11-07T09:02:07Z"],["dc.date.available","2018-11-07T09:02:07Z"],["dc.date.issued","2011"],["dc.description.abstract","Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in >70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of similar to 9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA. Copyright (C) 2010 S. Karger AG, Basel"],["dc.identifier.doi","10.1159/000316393"],["dc.identifier.isi","000283866600018"],["dc.identifier.pmid","20639618"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8160"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24604"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Karger"],["dc.relation.issn","1424-859X"],["dc.relation.issn","1424-8581"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]