01p100

1p10

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(1;16)(p1;p3).
    Aberration: Reciprocal translocation
    No band

  • Lanphear N, Lamb A, Oppenheimer S, Soukup S.: Supernumerary chromosome marker (1) in a developmentally delayed child. AJMG 57:400-402, 1995. [PubMed: 7545867]
    mos46,XY/47,XY,+r(1)de novo.
    The patient was 15 months old with mild developmental delay and several minor anomalies.
    Aberration: Ring chromosome
    No band

  • Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B.: Three cases of mosaicism for balanced reciprocal translocations. AJMG 79:362-365, 1998. [PubMed: 9779802]
    Case 2:
    CVS=46,XX[15] initial examination.,After 33 weeks: 80 cells were examined: ,mos46,XY,t(1;5)(p10;q10),inv(11)(q21q23)[11]/46,XY,der(1)t(1;5),(p10;q10)t(1;7)(p32.3;q34),der(5)t(1;5),der(7)t(1;7),,inv(11)(q21q23)[3]/46,XY[66].,Blood after birth: 46,XY,t(1;5)(p10;q10),inv(11)(q21q23)[29]. Father=mos46,XY,inv(11)(q21q23)[12]/46,XY,t(1;5)(p10;q10),,inv(11)(q21q23)[2].
    No congenital anomalies were detected after birth. The sex discrepancy was detected at 33 weeks on ultrasound and further studies were done with the above results.
    Aberration: Reciprocal translocation

  • Lucas J N, Hill F S, Chen A M, Burk C E.: A rapid method for measuring pericentric inversions using fluorescence in situ hybridization (FISH). Int. J. Radiat. Biol. 71:29-33, 1997. [PubMed: 9020960]
    inv(1)(p1q1)
    A pericentric inversion is made observable by the change in position (switching) of the FISH signals realtive to the centromere ie green-red-green (normal) and green-green-red (inverted).
    Aberration: Inversion pericentric
    Index Terms: FISH
    No band

  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XX,t(1;8)(p10;q10)
    Aberration: Whole-arm translocations
    Index Terms: ICSI