Zur Kurzanzeige

Array-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen?

dc.contributor.advisorZirn, Birgit Prof. Dr. Dr.
dc.contributor.authorKlein, Nina
dc.date.accessioned2017-01-16T10:13:27Z
dc.date.available2017-02-01T23:50:33Z
dc.date.issued2017-01-16
dc.identifier.urihttp://hdl.handle.net/11858/00-1735-0000-002B-7D15-D
dc.identifier.urihttp://dx.doi.org/10.53846/goediss-6078
dc.language.isodeude
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddc610de
dc.titleArray-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen?de
dc.typedoctoralThesisde
dc.title.translatedArray CGH in patients with developmental or intellectual disability: are there phenotypic clues to pathogenic copy number variations?de
dc.contributor.refereeZoll, Barbara Prof. Dr.
dc.date.examination2017-01-25
dc.description.abstractengArray 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.de
dc.contributor.coRefereeSchön, Margarete Prof. Dr.
dc.subject.engCGH Arrayde
dc.identifier.urnurn:nbn:de:gbv:7-11858/00-1735-0000-002B-7D15-D-2
dc.affiliation.instituteMedizinische Fakultätde
dc.subject.gokfullPädiatrie / Neonatologie / Kinderchirurgie - Allgemein- und Gesamtdarstellungen (PPN619876093)de
dc.description.embargoed2017-02-01
dc.identifier.ppn876973241


Dateien

Thumbnail

Das Dokument erscheint in:

Zur Kurzanzeige