Ontology highlight
ABSTRACT:
SUBMITTER: Mc Cormack A
PROVIDER: S-EPMC3932285 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Mc Cormack Adrian A Taylor Juliet J Te Weehi Leah L Love Donald R DR George Alice M AM
Case reports in genetics 20140204
Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication ...[more]