title: Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.
abstract: We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17.
authors.affiliation: Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
authors.forename: Karl
authors.initials: K
authors.lastname: Hackmann
authors.forename: Anja
authors.initials: A
authors.lastname: Stadler
authors.forename: Jens
authors.initials: J
authors.lastname: Schallner
authors.forename: Kathlen
authors.initials: K
authors.lastname: Franke
authors.forename: Eva-Maria
authors.initials: EM
authors.lastname: Gerlach
authors.forename: Evelin
authors.initials: E
authors.lastname: Schrock
authors.forename: Andreas
authors.initials: A
authors.lastname: Rump
authors.forename: Christine
authors.initials: C
authors.lastname: Fauth
authors.forename: Sigrid
authors.initials: S
authors.lastname: Tinschert
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
mesh_terms: D002648:Child; D056905:Chromosome Breakpoints; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D013036:Spasms, Infantile / Q000235:genetics* / Q000503:physiopathology; D013576:Syndactyly / Q000235:genetics* / Q000503:physiopathology; D058670:Tetrasomy / Q000235:genetics / Q000503:physiopathology
chemical_list: D051858:Forkhead Transcription Factors; C070635:interleukin binding factor
keywords: 17q25.3; Dandy-Walker malformation; FOXK2; West syndrome; duplication; intellectual disability; mental retardation; partial tetrasomy; syndactyly; triplication