Zoll, Barbara

[["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.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"]]