Article
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.
American journal of medical genetics. Part A - 1 Oct 2015
Samango-Sprouse Carole, Keen Colleen, Mitchell Francie, Sadeghin Teresa, Gropman Andrea
Abstract excerpt
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age =...
Topics
- Apraxias
- Child
- Cognition
- Craniofacial Abnormalities
- Female
- Humans
- Intellectual Disability
- Learning Disabilities
- Motor Activity
- Neuropsychological Tests
- Parents