title: De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.
abstract: We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations.
authors.affiliation: Department of Biochemistry, Health Sciences Centre, University of Manitoba, Winnipeg, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Sudha
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: A N
authors.initials: AN
authors.lastname: Prasad
authors.forename: D
authors.initials: D
authors.lastname: Konkin
authors.forename: G W
authors.initials: GW
authors.lastname: de Groot
authors.forename: C
authors.initials: C
authors.lastname: Prasad
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans