01q212

1q21.2

Publication Details

  • Fryns J P, Kleczkowska A, Moerman Ph, Van den Berghe K, Van den Berghe H: Double autosomal trisomy (1q21.2 to qter and 14pter to q13) in a female fetus with nuchal oedema. Ann. Genet. 240-242, 1987. [PubMed: 3501268]
    It is possible that two pregnancies were similarly affected.
    Mother:46,XX,t(1;14)(q21.2;q13).&"47,XX,+der(14),t(1;14)(14pter -> 14q13::1q21.2 -> 1qter)."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+,14q+
    Positive band

  • Neu R L, Miller K, 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. 130.
    46,XX,t(1;16)(q21.2;q22).
    Observation No. 142.
    46,XY,t(1;17)(q21.2;p13).
    Aberration: Reciprocal translocation
    Positive band