06p212

6p21.2

Publication Details

  • Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen P K A, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen K R, Rasmussen K, Tommerup N.: Disease associated balanced chromosome reaarngements: a resource for large scale genotype-phenotype delineation in man. J. Med. Genet. 37:858-865, 2000. [PMC free article: PMC1734480] [PubMed: 11073540]
    Wirth J, Nothwang H-G, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers H-H, Haaf T.: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J. Med. Genet. 36:271-278, 1999. [PMC free article: PMC1734345] [PubMed: 10227392]
    Case 5:
    46,XY,t(6;13)(p21;q33.3)
    Patient, born in 1986, had large, low-set ears, microcephaly, and strabismus convergens. From age 6 has epilepsy, and moderate MR.
    Aberration: Reciprocal translocation

  • Chauveau P, Chabrolle J P, Couturier J: "6p trisomy due to a de novo t(6;12) translocation." Sem. Hop. 64:1967-1969, 1988,1988.
    The authors report the same patient in two separate publications]
    Proband born on September 27, 1987.
    46,XY,t(6;12)(p21.2;p13).&"46,XY,t(6;12)(12qter -> 12p13::6p21.2 -> 6pter)de novo."
    Neonate with dysmorphic features and cardiac malformation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+,12p-
    Positive band

  • Dominguez M G, Wong-Ley L E, Rivera H, Vasquez A I, Ramos A L, Sanchez-Urbina R, Morales J A, Figuera L E.: Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23). Ann. Genet. 46:45-48, 2003. [PubMed: 12818529]
    Mother=46,XX,ins(16;6)(p12;p21.2p23).,Proband=46,XY,der(16)ins(16;6)(p12;p21.2p23)mat.
    The infant had MCA.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 6p+
    Index Terms: 2003

  • Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, Kosaki K.: Cleidocranial dysplasia plus vascular anoamlies with 6p21.2 microdeletion spanning RUNX2 and VEGF. AJMG 140A:398-401, 2006. [PubMed: 16419134]
    46,XY.ish del(6)(p21.2p21.2)(RUNX2-,VEGF-)
    A 14 month old patient with CCD is described.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: Cleidocranial dysplasia, RUNX2, VEGF