02q110

2q11

Publication Details

  • Anneren G, Gustavson K H: A fragile secondary constriction on chromosome 2 in five patients with different clinical features. Hereditas 95:63-67, 1981. [PubMed: 7333874]
    In some cases there was del(2)(q11) state.
    Aberration: Fragile sites
    Variable band

  • Balestrazzi P, Mattei M G, Baeteman M A, Mattei J F, Giraud F: "Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11)." Europ. J. Ped. 141:250-251, 1984. [PubMed: 6734677]
    46,XY,t(2;9)(q11;p11).
    Aberration: Whole-arm translocations
    Index Terms: Retinoblastoma
    Variable band

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(2;22)(q11;p11).
    Aberration: Reciprocal translocation
    Variable band

  • Chudley A E, Ray M, Evans J A, Cheang M: Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study. Clin. Genet. 38:241-256, 1990. [PubMed: 2268971]
    NB # 1340, MR # 442, and MR # 571.
    46,XX,fra(2)(q11).
    Aberration: Fragile sites
    Variable band

  • Fryns J P, Van den Berghe H: Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. Ann. Genet. 22:125-127, 1979. [PubMed: 316665]
    Family G. V. in this report.
    46,XY,t(2;14)(q11;q24).&"46,XX,der(2)der(14)t(2;14)(q11;q24)mat."
    Aberration: Reciprocal translocation
    Variable band

  • Ioan D M, Dumitriu L, Museteanu P, Ioanitiu D, Pop T, Maximilian C: Cytogenetic investigation in 300 couples with recurrent fetal wastage. Romanian J. Med. 25:145-148, 1987. [PubMed: 3685845]
    46,XX,t(2;14)(q11;q24).
    Aberration: Simple translocation
    Variable band

  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    M. R. C. Registry No. K210-190-72 in this report.
    46,XX,t(2;10)(q11;q22).
    Aberration: Simple translocation
    Variable band

  • Krishna Murthy D S, Teebi A S, Sundareshan T S, Al-Awadi S A: Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation. Ind. J. Ped. 57:257-260, 1990. [PubMed: 2246023]
    Aberration: Marker chromosome
    Variable band

  • Mohandas T K, Kaback M M, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1739.
    46,XX,inv(2)(q11q23)pat.
    Aberration: Inversion paracentric
    Variable band

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(2;22)(q11;q11).
    Aberration: Reciprocal translocation
    Variable band

  • Samadder P, Evans J A, Chudley A E: Segregation analysis of rare autosomal folate sensitive sites. AJMG 46:165-171, 1993. [PubMed: 8484403]
    The authors found a deficiency of offspring expressing fragile sites when transmission was through fathers, suggesting gametic selection or the phenomenon of parental genomic imprinting.
    Aberration: Fragile sites
    MIM#: 136610
    Variable band

  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 21, SC.
    46,XX,t(2;22)(q11;q11).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Variable band

  • Sun N C, Sun C R Y, Chu E H Y: Regional chromosomal localization of the human gene for galactose -1- phosphate uridyltransferase. Hum. Genet. 37:279-284, 1977. [PubMed: 885547]
    These authors present more evidence for their earlier view that G-1-PUT is on chromosome 2 and further localize it to 2q11->2q14. Tedesco has assigned G-1-PUT to chromosome 3, however. A sub-clone was missing from region 2q21->2qter while the hybrid still expressed the Gal-1-PUT phenotype.
    MIM#: 230400
    Variable band

  • Sutherland G R: and II. Distribution, phenotypic effects, and cytogenetics. AJHG 31:136-148, 1979. [PMC free article: PMC1685761] [PubMed: 453198]
    Sutherland G R: Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites. AJHG 34:452-458, 1982. [PMC free article: PMC1685345] [PubMed: 7081222]
    It is speculated that these fragile sites at 2q11, 10q23, 11q13, 16p124, 16q22, 20p11 and Xq27 or 28 might be deleterious in homozygous state as they are in hemizygous condition.
    Aberration: Fragile sites
    Variable band

  • Takahashi E I, Hori T A, Murata M: Population cytogenetics of rare fragile sites in Japan. Hum. Genet. 78:121-126, 1988. [PubMed: 3338799]
    Aberration: Fragile sites
    Variable band

  • Till M, Devillard F, Crost P, Bachy M, Prieur F, Bertheas M F: Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case. AJMG 40:370-373, 1991. [PubMed: 1951445]
    46,XY,t(2;13;16)(q11;q12;p11), ins(6;7)(p21.3;q21.3q35).
    The 30 month old had MCA/MR.
    Aberration: CT,IX
    Variable band

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XX,t(2;6)(q11;p23).&"46,XX,t(2;7)(q11;p11)."
    Data from UCSF.
    46,XX,t(2;8)(q11;q24).
    Bilateral renal agenesis was present. Elective termination was performed.
    Aberration: Reciprocal translocation
    Index Terms: Bilateral renal agenesis
    Variable band