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Privat-docent thesis
English

High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome

Defense date2013
Abstract

Constitutional chromosomal imbalance has been recognized, for a long time, as an important cause of congenital and developmental abnormalities including developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASD) and/or multiple congenital anomalies (MCA). The high-resolution array-based comparative genome hybridization (array CGH) has led to the detection of large numbers of copy number variants (CNVs) in patients with developmental delay and/or multiple congenital anomalies, as well as in healthy individuals, that challenges the interpretation of the clinical significance of detected CNVs in patients. The objective of this work is to present a retrospective review of array-CGH data of 482 children with unexplained intellectual disability +/- congenital abnormalities. This work reinforces the current status practice of array-based technology use for postnatal diagnosis and supports that it will replace standard cytogenetics as a first-line test for clinical evaluation in the population with ID +/- congenital abnormalities.

eng
Keywords
  • array-CGH
  • intellectual disability
  • copy number variant
Citation (ISO format)
SLOAN BENA, Frédérique. High resolution microarray investigation in patients with developmental delay and/or multiple congenital anomalies: delineation of new candidates regions on the human genome. 2013. doi: 10.13097/archive-ouverte/unige:29239
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Creation07/12/2013 2:35:00 PM
First validation07/12/2013 2:35:00 PM
Update time03/14/2023 8:22:22 PM
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