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Recent selection of candidate genes for mammal domestication in Europeans and language change in Europe: a hypothesis ...
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Recent selection of candidate genes for mammal domestication in Europeans and language change in Europe: a hypothesis ...
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Language impairment with a microduplication in 1q42.3q43 ...
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Language impairment with a microduplication in 1q42.3q43 ...
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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 capacities of a girl with one of the smallest interstitial duplications ever described in this region, affecting to 1q42.3q43 (arr[hg19] 1q42.3q43(235,963,632–236,972,276)x3), and advance potential candidate genes for the observed deficits. The proband’s speech is severely impaired, exhibiting dysarthric-like features, with speech problems also resulting from a phonological deficit boiling down to a verbal auditory memory deficit. Lexical and grammatical knowledge are also impaired, impacting negatively on both expressive and receptive abilities, seemingly as a consequence of the phonological deficit. Still, her pragmatic ...
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Keyword:
110309 Infectious Diseases; 111714 Mental Health; FOS Biological sciences; FOS Health sciences; Genetics; Hematology; Medicine; Neuroscience; Pharmacology; Science Policy
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URL: https://tandf.figshare.com/articles/dataset/Language_impairment_with_a_microduplication_in_1q42_3q43/12887113/1
https://dx.doi.org/10.6084/m9.figshare.12887113.v1
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