05q112

5q11.2

Publication Details

  • Breslau-Siderius E J, Wijnen J Th, Dauwerse J G, de Pater J M, Beemer F A, Khan P M: Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. Hum. Genet. 92:481-485, 1993. [PubMed: 8244339]
    46,XY,dup(5)(q11.2q15)tandem.
    DNA probes were used to make the decisive interpretation.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
    Index Terms: Craniostenosis,Ear tags,Kidney ... dysplasia
    Negative band

  • Fukushima Y, Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T.: De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. AJMG 57:447-449, 1995. [PubMed: 7677149]
    Patient M.E. (0-7732-1):
    46,XX,t(5;17)(q11.2;23)de novo.
    The patient was 6 years old and referred for evaluation of bone dysplasia.
    Aberration: Reciprocal translocation
    Index Terms: Klippel-Feil anomaly, Brachydactyly Type A1
    Negative band

  • Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter N P, Scambler P.: A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. Hum. Genet. DOI=10.1007/s00439-004-1195-6; 116:83-90, 2004 and 2005. [PubMed: 15549396]
    Patient 5:
    46,XY. ish del(5)(D5S2037, D5S664, D5S491).
    The 11 year old patient had tetralogy of Fallot, a bifid uvula and velopharyngeal insufficiency, short stature, learning and behavioural difficulties.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-

  • Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]
    46,XY,rcp(5;9)(q11.2;q34.1).
    Aberration: Reciprocal translocation
    Negative band

  • Sharland M, Patton M A, Hill L: Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. AJMG 39:413-414, 1991. [PubMed: 1877619]
    46,XY,t(5;7;9)(5q11.2;5q34;7q21.2;7q31.3;9q22.1).&"46,XY,t(5;7;9)(5pter -> 5q11.2::5q34 -> 5qter;9pter -> 9q22::7q31.3 -> 7q21.2::5q34 -> 5q11.2::7q31.3 -> 7qter; 7pter -> 7q21.2::9q22.1 -> 9qter)."
    A 10 month old who is developmentally normal but has tetramelic ectrodactyly is described.
    It is hypothesized that the chromosome break occurs within the gene responsible for complete hand ray development.
    Aberration: Complex translocation
    Index Terms: Ectrodactyly
    Negative band

  • Sherrington R, Mankoo B, Dixon M, Curtis D, Kalsi G, Melmer G, Gurling H: Microsatellite polymorphisms for chromosome 5 bands q11.2-q13.3. Hum. Hered. 43:197-202, 1993. [PubMed: 8330884]
    New polymorphic microsatellites were sequenced for D5S76, D5S125, D5S39, D5S127 and HEX-B.
    Aberration: Marker chromosome
    Index Terms: Microsatellite polymorphisms
    Negative band

  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Patient 14 was because of MR, dysmorphic features, and cardiac anomalies.
    46,XY,ins(8;5)(q24.1;q11.2q22)
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 5q+