10p121

10p12.1

Publication Details

  • Same entry as in 08q12.3 (Astbury et al, 2004).

  • Yatsenko S A, Yatsenko A N, Szigeti K, Craigen W J, Stankiewicz P, Cheung S W, Lupski J R.: Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin. Genet. DOI=10.1111/j.1399-0004.2004.00290.x, 2004. [PubMed: 15253763]
    Patient KK=46,XY,del(10)(p12.1p12.31), approximately 5.5 Mb and includes NEBL gene (RP11-56H7).
    Aberration: Interstitial deletion
    MIM#: 601362
    Chromosomal Aneuploidy: 10p-
    Index Terms: DiGeorge 2 syndrome