Ontology highlight
ABSTRACT:
SUBMITTER: Marco EJ
PROVIDER: S-EPMC3028392 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
BMJ case reports 20090702
We identified a female patient with mental retardation and sensory hyperarousal. She has a de novo paracentric inversion of one X chromosome with completely skewed inactivation of the normal X chromosome. We aimed to identify whether a single gene or gene region caused her cognitive and behavioural impairment and that of others. Fluorescent in situ hybridisation (FISH) showed that the centromeric breakpoint disrupts a single gene: ARHGEF9 (CDC42 guanine nucleotide exchange factor (GEF) 9). We al ...[more]