• Lybaek H, Meza-Zepeda L A, Kresse S H, Hoysaeter T, Steen V M, Houge G.: Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. Europ. J. Hum. Genet. 16: 1318-1328, 2008. [PubMed: 18461090]
    No. 77:
    dim(2)(q22.2q22.3)dn,
    Mowat-Wilson syndrome, died unexpectedly when 2 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Array-CGH,HR-CGH

  • Sider D, Wilson W G, Sudduth K, Atkin J F, Kelly T E: Cytogenetic studies in couples with recurrent pregnancy loss. Southern Med. J. 81:1521-1524, 1988. [PubMed: 3201300]
    46,XY,t(2;13)(q22.2;q33.1).
    Aberration: Simple translocation
    Negative band