A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.
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DOI: 10.1016/j.ejmg.2018.10.010
Abstract: Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been… read more here.
Keywords: analysis; kdm5b gene; microduplication; chromosome microarray ... See more keywords