Ontology highlight
ABSTRACT:
SUBMITTER: Benitez-Burraco A
PROVIDER: S-EPMC7802463 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Benítez-Burraco Antonio A Fernández-Urquiza Maite M Jiménez-Romero Mª Salud MS
Molecular syndromology 20201211 5-6
Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045-459,076)×3. The proband exhibits marked expressive and receptive problems, which affect both structural and functional aspects of language. These problems might result from a severe underlying deficit in working mem ...[more]