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

Array CGH in patients with developmental or intellectual disability: are there phenotypic clues to pathogenic copy number variations?

Nina Klein
Doctoral thesis
Date of Examination: 2017-01-25
Date of issue: 2017-01-16
Advisor: Zirn, Birgit Prof. Dr. Dr.
Referee: Zoll, Barbara Prof. Dr.
Referee: Schön, Margarete Prof. Dr.

Persistent Address: http://hdl.handle.net/11858/00-1735-0000-002B-7D15-D

 

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Abstract

English

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.
Keywords: CGH Array
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