02p241

2p24.1

Publication Details

  • Trappe R, Bohm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfreind P.: A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis. Cytogenet. Genome Res. 98:1-8;DOI=10.1159/000068533, 2002. [PubMed: 12584434]
    Individuals I.2, II.3=46,XY,t(2;20)(p24.1;q13.1).,Individual II.2=46,XX,der(2)der(20)t(2;20)(p24.1;q13.1)pat.
    A three generation family is reported. A 25 year old woman (II.2) and her 31 year old husband (II.1) were referred for genetic counseling because of two abortions at 8 and 6 weeks, respectively. Unfortunately none of the spontaneous abortions were examined cytogenetically. Sperm chromosome analyses showed a high (55%) frequency of unbalanced spermatozoa with adjacent and 3:1 segregation patterns resulting in monosomies and trisomies of chromosomes involved.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+;2p-;20q-;20q+