02q241

2q24.1

Publication Details

  • Higgins J V, Center J, 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. 203.
    46,XX,t(2;6)(q24.1;p11)pat.
    Aberration: Reciprocal translocation
    Positive band

  • Langer S, Geigl J B, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C, Leifheit H-J, Speicher M R.: Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. AJMG DOI=10.1002/ajmg.a.31141; 140A:764-768, 2006. [PubMed: 16523518]
    46,XX,der(2)t(2;15)(2pter->2q24.1::15q14->15qter;der(15)t(2;15)(15pter->15q14::2q31.1->2qter)de novo.
    The patient died at the age of 3 years and 2 months during a phase of apnea with unsuccessful resuscitation.
    Aberration: Interstitial deletion
    MIM#: 604233
    Index Terms: Epilepsy

  • Siffroi J P, Gomes D M, Roume J.: The fetal phenotype of partial 2q trisomy. Prenat. Diag. 15:382-384, 1995. [PubMed: 7617582]
    46,XX,-7,+der(7)t(2;7)(q24.1;q35)mat.
    The fetus was 22 weeks old at abortion.
    Mother was 38 years old. She has had 2 miscarriages and 2 normal daughters.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q+
    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;10)(q24.1;p11).
    Aberration: Reciprocal translocation
    Positive band