02q120

2q12

Publication Details

  • 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;21)(q12;q22).
    Aberration: Reciprocal translocation
    Positive band

  • Coco R, Penchaszadeh V B: "Partial trisomy 14q and familial translocation (2;14)(q12;q13)." Ann. Genet. 20:41-44, 1977. [PubMed: 302672]
    Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    There were 14 progeny products in this three generation translocation family: seven persons were carriers, two were normal, one was deceased, one was aneuploid (proband) and three were spontaneous abortions.
    46,XX and XY,der(2)der(14),t(2;14)(q12;q13)mat and pat.&"46,XX and XY,t(2;14)(2pter -> 2q12::14q13 -> 14qter;14pter -> 14q13::2q12 -> 2qter)mat and pat."
    Case 120.
    47,XX,-2,+del(2)(2pter -> 2q12),+der(14),t(2;14)(q12;q13)mat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • Hsu L, 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. 202.
    46,XX,t(2;6)(q12;q27).
    Aberration: Reciprocal translocation
    Positive band

  • Leisti J: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. fenn. (Med.) Series A, IV, Biologica 179:1-69, 1971. [PubMed: 4261167]
    Case No. 1 in this report.
    46,XX,2qh.
    Aberration: Marker chromosome
    Positive band

  • Lejeune J, Dutrillaux B, Lafourcade J, Berger R, Abonyi D, Rethore M O: Endoreduplication selective du bras long du chromosome 2 chez une femme et sa fille. C. R. Acad. Sci. 266:24-26, 1968. [PubMed: 4967624]
    Aberration: Marker chromosome
    Positive band

  • Nielsen J: Structural aberration in chromosome No. 2. Humangenetik 19:281-284, 1973. [PubMed: 4763933]
    A gap was found at approximately 2q12 in two males with no effect on the phenotype.
    Positive 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;9)(q12;p13).
    Aberration: Reciprocal translocation
    Positive band