dc.contributor.advisor | Zirn, Birgit Prof. Dr. Dr. | |
dc.contributor.author | Klein, Nina | |
dc.date.accessioned | 2017-01-16T10:13:27Z | |
dc.date.available | 2017-02-01T23:50:33Z | |
dc.date.issued | 2017-01-16 | |
dc.identifier.uri | http://hdl.handle.net/11858/00-1735-0000-002B-7D15-D | |
dc.identifier.uri | http://dx.doi.org/10.53846/goediss-6078 | |
dc.language.iso | deu | de |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject.ddc | 610 | de |
dc.title | Array-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen? | de |
dc.type | doctoralThesis | de |
dc.title.translated | Array CGH in patients with developmental or intellectual disability: are there phenotypic clues to pathogenic copy number variations? | de |
dc.contributor.referee | Zoll, Barbara Prof. Dr. | |
dc.date.examination | 2017-01-25 | |
dc.description.abstracteng | 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. | de |
dc.contributor.coReferee | Schön, Margarete Prof. Dr. | |
dc.subject.eng | CGH Array | de |
dc.identifier.urn | urn:nbn:de:gbv:7-11858/00-1735-0000-002B-7D15-D-2 | |
dc.affiliation.institute | Medizinische Fakultät | de |
dc.subject.gokfull | Pädiatrie / Neonatologie / Kinderchirurgie - Allgemein- und Gesamtdarstellungen (PPN619876093) | de |
dc.description.embargoed | 2017-02-01 | |
dc.identifier.ppn | 876973241 | |