6533b856fe1ef96bd12b3302

RESEARCH PRODUCT

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

Simona CavaniMarco FicheraPatrizia SalatielloGiovanni CorselloMauro PierluigiMichela MalacarneMaria PiccioneCinzia SanfilippoDaniela Luciano

subject

GeneticsChromosomes Human XComparative Genomic HybridizationMental Disordershuman geneticsBiologyPhenotypeHuman geneticspsychiatric disorderfunctional Xp disomySettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaX Chromosome InactivationChild PreschoolGene duplicationChromosome DuplicationGeneticsMental Retardation X-LinkedHumansarray CGHFemaleChildfunctional Xp disomy; array CGH; psychiatric disorders; human geneticsGenetic Association StudiesSex Chromosome Aberrations

description

CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli

yearjournalcountryeditionlanguage
2011-01-01
http://hdl.handle.net/10447/80063