title: De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
abstract: Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
authors.affiliation: Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. kerstin.becker1@tu-dresden.de
authors.forename: Kerstin
authors.initials: K
authors.lastname: Becker
authors.forename: Nataliya
authors.initials: N
authors.lastname: Di Donato
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Louis
authors.initials: L
authors.lastname: Vallée
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Plessis
authors.forename: Nolwenn
authors.initials: N
authors.lastname: Jean
authors.forename: Bruno
authors.initials: B
authors.lastname: Delobel
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Kirstine
authors.initials: K
authors.lastname: Ravn
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Sigrid
authors.initials: S
authors.lastname: Tinschert
authors.forename: Evelin
authors.initials: E
authors.lastname: Schrock
authors.forename: Aia Elise
authors.initials: AE
authors.lastname: Jønch
authors.forename: Karl
authors.initials: K
authors.lastname: Hackmann
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome; D055815:Young Adult