title: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
abstract: Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
authors.affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
authors.forename: David A
authors.initials: DA
authors.lastname: Koolen
authors.forename: Lisenka E L M
authors.initials: LE
authors.lastname: Vissers
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Samantha J L
authors.initials: SJ
authors.lastname: Knight
authors.forename: Regina
authors.initials: R
authors.lastname: Regan
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Alessandra
authors.initials: A
authors.lastname: Baumer
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
authors.forename: Nine V
authors.initials: NV
authors.lastname: Knoers
authors.forename: Ad Geurts
authors.initials: AG
authors.lastname: van Kessel
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002886:Chromosomes, Human, Pair 17; D015331:Cohort Studies; D005145:Face / Q000473:pathology; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000503:physiopathology; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D015995:Prevalence; D011859:Radiography; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics; D013577:Syndrome; D016875:tau Proteins / Q000235:genetics; D000099052:CRF Receptor, Type 1
chemical_list: C054369:MAPT protein, human; D018019:Receptors, Corticotropin-Releasing Hormone; D016875:tau Proteins; D000099052:CRF Receptor, Type 1