title: Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.
abstract: A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A maternal uncle had died at the age of 4 years with the same clinical picture. After reviewing the literature, we conclude that the monosomy 5p is the most likely cause for this malformation. We suggest that the possible existence of chromosomal anomalies should always be considered in the differential diagnosis of hypoplasia of the cerebellum and/or brainstem.
authors.affiliation: Department of Neurology, Juliana Children's Hospital, The Hague, The Netherlands.
authors.forename: W F
authors.initials: WF
authors.lastname: Arts
authors.forename: Y
authors.initials: Y
authors.lastname: Hofstee
authors.forename: G F
authors.initials: GF
authors.lastname: Drejer
authors.forename: G C
authors.initials: GC
authors.lastname: Beverstock
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
mesh_terms: D001933:Brain Stem / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000002:abnormalities*; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011859:Radiography; D014178:Translocation, Genetic / Q000235:genetics