Language impairment with a microduplication in 1q42.3q43
Journal: bioRxiv (Cold Spring Harbor Laboratory)
Year: 2020

ABSTRACT Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper we report on the cognitive and language features of a girl with one of the smallest interstitial duplications ever described in this region,