title: Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.
abstract: Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication. The clinical course of infantile spasms was very similar in the mother and daughter. The spasms were primarily considered to be of unknown aetiology. Chromosomal microarray analysis revealed a 6.2 Mb size 15q11.2q13.1 duplication. The duplication belongs to the 15q11q13 duplication syndrome (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, cognitive deficit, language delay and epilepsy. The proportion of patients with unknown aetiology for infantile spasms will decrease when more careful chromosomal studies are made. Our report expands the phenotype of chromosome 15q duplication syndrome and is the first report of this abnormality in two successive generations of infantile spasms.
authors.affiliation: Children's Hospital and Science Service Center, University of Eastern Finland, Kuopio, Finland. Electronic address: raili.riikonen@kolumbus.fi.
authors.forename: Raili Sylvia
authors.initials: RS
authors.lastname: Riikonen
authors.affiliation: Central Hospital of Kymenlaakso, Kotka, Finland. Electronic address: Tiina.Wallden@carea.fi.
authors.forename: Tiina
authors.initials: T
authors.lastname: Wallden
authors.affiliation: Nothern Finland Laboratory Centre NordLab and Medical Research Centre, Oulu University Hospital and University of Oulu, Oulu, Finland. Electronic address: Hannaleena.Kokkonen@nordlab.fi.
authors.forename: Hannaleena
authors.initials: H
authors.lastname: Kokkonen
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000235:genetics; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype; D013036:Spasms, Infantile / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult
keywords: 15q11q13 chromosome duplication; Infantile spasms in successive generations