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- Title
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
- Authors
Ariani, F; Mari, F; Amitrano, S; Di Marco, C; Artuso, R; Scala, E; Meloni, I; Della Volpe, R; Rossi, A; Bokhoven, H; Renieri, A
- Abstract
The article presents a case study of two brothers with severe intellectual disability (ID) and congenital microcephaly. It notes that the brothers were unable to take care of their selves and both demonstrated hyperactivity with aggressive behavior. Magnetic resonance imaging (MRI) of the brain has depicted thin brain stem, normal corpus callosum and global reduction in brain size of the older brother. It indicates that several genetic tests were performed after the genetic counseling.
- Subjects
CASE studies; INTELLECT &; genetics; MICROCEPHALY; AGGRESSION (Psychology); MAGNETIC resonance imaging of the brain; GENETIC testing; GENETIC counseling; DIAGNOSIS
- Publication
Clinical Genetics, 2013, Vol 83, Issue 3, p288
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2012.01901.x