06p000

6p00

Publication Details

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 16745 in this report.
    46,XX,t(6;14)(p;q12).,46,XX,t(6;14)(6qter->6p::14q12->14qter;14pter->14q12::6p->6pter).
    Aberration: Reciprocal translocation
    No band

  • Davidson H R, Cooke A, Colgan J, Tolmie J L: Ring chromosome 6 in mother and daughter. J. Med. Genet. 27:654(Abstract), 1990.
    46,XX,der r(6)mat.
    Mother had short stature, and the patient had severe growth retardation without other major anomalies.
    Aberration: Ring chromosome
    No band

  • Fried K, Rosenblatt M, Mundel G, Krikler R: Mental retardation and congenital malformations associated with a ring chromosome 6. Clin. Genet. 7:192-196, 1975. [PubMed: 1139788]
    Case 230671 in this report.
    46,XY,r(6).
    Aberration: Ring chromosome
    No band

  • Jacobsen P, Mikkelsen M, Niebuhr E, de Grouchy J: "A case of 18q- in a t(18q-;6p+) family." Ann. Genet. 14:41-48, 1971. [PubMed: 5314293]
    46,XX and XY,t(6p+;18q-).,46,XY,der(6)der(18)t(6p+;18q-)mat.,46,XY,der(18)t(6p+;18q-)pat.
    Aberration: Simple translocation
    No band

  • Moore C M, Heller R H, Thomas G H: Developmental abnormalities associated with a ring chromosome 6. J. Med. Genet. 10:299-303, 1973. [PMC free article: PMC1013038] [PubMed: 4774541]
    46,XX,r(6)(pq).
    Aberration: Ring chromosome
    No band

  • Petrosky D L, Borgaonkar D S: Segregation analysis in reciprocal translocation carriers. AJMG 19:137-159, 1984. [PubMed: 6496566]
    No band

  • Saura R, Longy M, Horovitz J, Vergnaud A, Grison O: Direct chromosome analysis in the second and third trimesters by placental biopsy in 30 pregnancies. Brit. J. Obst. Gynecol. 96:1215-1218, 1989. [PubMed: 2590658]
    Patient 24.
    46,XY,6p+.
    Multiple deformities were present, and indication was wide ureters with pregnancy termination.
    No band

  • Therkelsen A J, Klinge T, Henningsen K, Mikkelsen M, Schmidt G: A family with a presumptive C/F translocation in five generations. Ann. Genet. 14:13-21, 1971. [PubMed: 5314290]
    Aberration: Reciprocal translocation
    No band

  • Webb T, Mackintosh P, Wells L J: Cytogenetic evidence for the localization of the gene for congenital adrenal hyperplasia. Clin. Genet. 17:349-354, 1980. [PubMed: 6969144]
    A gap between bands 6p12 and 6p22 at 6p21.2 sub-band was used in this linkage study.
    Aberration: Marker chromosome
    Index Terms: Adrenal hyperplasia
    No band