08q223

8q22.3

Publication Details

  • Lin C C, Bowen P, Hoo J J: Familial inversions inv (2)(q31q35) and inv (8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum. Genet. 75:84-87, 1987. [PubMed: 3804335]
    Family 2 proband was a 30 year old. His daughter has a small deletion and has Langer-Giedion syndrome.
    46,XY,inv(8)(q22.3q24.13)&46,XX,del(8)(q23.3q24.13)
    Aberration: Inversion paracentric
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Negative band

  • Shanske A L, Patel A, Saukam S, Levy B, Ludecke H-J.: Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). AJMG part A: 146A: 3211-3216, 2008. [PubMed: 19012352]
    Blood-46,XX,del(8)(q22.3q24.130[7]/46,XX[98].,Skin-46,XX,del(8)(q22.3q24.13)[15]/46,XX[6].ish8q24.1(EXT1x1,TRPS1x1)[29]/ish 8q24.1(EXT1x2,TRPS1x2)[1].
    Patient was 14.5 years old with TRPS.
    Aberration: Interstitial deletion
    MIM#: 150230
    Chromosomal Aneuploidy: 8q-
    Index Terms: Langer-Giedion syndrome

  • Temple I K, Barber J C K, James R S, Burge D.: Diaphragmatic herniae and translocations involving 8q22 in two patients. J. Med. Genet. 31:735-737, 1994. [PMC free article: PMC1050088] [PubMed: 7815446]
    Case 1:
    46,XX,t(8;13)(q22.3;q22)mat.
    Case 2:
    46,XX,t(8;15)(q22.3;q15)mat.
    Aberration: Simple translocation
    MIM#: 229850
    Index Terms: Diaphragmatic hernia
    Negative band

  • Wang Q, Timur A A, Szafranski P, Sadgephour A, Jurecic V, Cowell J, Baldini A, Driscoll D J.: Identification and molecular characterization of de novo translocation t (8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenet. Cell Genet. 95:183-188, 2001. [PMC free article: PMC1579861] [PubMed: 12063397]
    Patient KTS002 was 15 year old with Klippel-Trenaunay syndrome.
    46,XY,t(8;14)(q22.3;q13)de novo
    Aberration: Simple translocation
    MIM#: 149000
    Index Terms: Klippel-Trenaunay-Weber syndrome