02p231

2p23.1

Publication Details

  • Cook L, Hartsfield J K, Jr, Vance G H.: Partners with reciprocal translocations: genetic counseling for the ''double translocation''. Clin. Genet. 53:403-407, 1998. [PubMed: 9660061]
    Case SV:
    46,XX,t(2;3)(p13.1;p13)mat,der(7)t(7;8)(q36.1;q24.13)pat.
    She was ascertained at 2 years of age because of MCA including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, and developmental delay.
    Aberration: DT,RT
    Chromosomal Aneuploidy: 7q-; 8q+

  • Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Devillard F, Lespinasse J, Sele B.: Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization. Cytogenet. Cell Genet. 71:240-246, 1995. [PubMed: 7587385]
    Subject E:
    46,XY,t(2;14)(p23.1;q31).
    His wife had 3 spontaneous abortions.
    Aberration: Reciprocal translocation
    Index Terms: Meiotic ... segregation
    Negative band

  • Wellesley D, Boyle T.: Regarding trisomy 2p syndrome. AJMG 92:295, 2000. [PubMed: 10842300]
    46,XX,der(3)t(2;3)(3pter->3q29::2p23.1->2pter)pat.
    The fetus was diagnosed at 15 weeks with anencephaly when the mother presented for amniocentesis on account of the known paternal translocation. A sacral meningomyelocele was also detected at autopsy.
    This case supports the notion that 2p24 is a candidate region for genes responsible for neural tube development.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+