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Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

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Published in 2017 at "Cytogenetic and Genome Research"

DOI: 10.1159/000471501

Abstract: Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes… read more here.

Keywords: severe neurodevelopmental; arms chromosomes; long arms; affecting long ... See more keywords