Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Abstract The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to identification of genetic alterations that can explain intellectual disability and /or congenital anomalies. However, the discovery of numerous copy nu...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of medical genetics 2010-03, Vol.53 (2), p.93-99
Hauptverfasser:	Li, Feng, Shen, Yiping, Köhler, Udo, Sharkey, Freddie H, Menon, Deepa, Coulleaux, Laurence, Malan, Valérie, Rio, Marlène, McMullan, Dominic J, Cox, H, Fagan, Kerry A, Gaunt, Lorraine, Metcalfe, Kay, Heinrich, Uwe, Hislop, Gordon, Maye, Una, Sutcliffe, Maxine, Wu, Bai-Lin, Thiel, Brian D, Mulchandani, Surabhi, Conlin, Laura K, Spinner, Nancy B, Murphy, Kathleen M, Batista, Denise A.S
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Autism Autistic Disorder - genetics Behavior problems Child Child, Preschool Chromosomes, Human, X - genetics CNV Cohort Studies Comparative Genomic Hybridization Female Gene Dosage Gene Duplication Genetic Variation Genetics, Behavioral Humans Infant Infant, Newborn Intellectual disability Intellectual Disability - genetics Male Medical Education Microarray Microdeletion Phenotype Polymorphism, Single Nucleotide SNP Steryl-Sulfatase - genetics STS X Chromosome Inactivation Xp22.31
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!