10q251

10q25.1

Publication Details

  • Hoo J J, Chao M, Szego K, Rauer M, Echiverri S C, Harris C.: Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin. AJMG 58:299-304, 1995. [PubMed: 8533837]
    A telomeric deletion followed by a U-type reunion of the chromatids is the proposed mechanism for these inverted terminal duplications.
    Case 4, B.A.
    46,XX,inv dup(10)(pter->q26.2::q26.2->q25.1)de novo.
    Patient was 4 years old with MCA and delayed development.
    Aberration: Duplication
    Chromosomal Aneuploidy: 10q+
    Positive band

  • McCandless S E, Schwartz S, Morrison S, Garlapati K, Robin N H.: Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: overlap with Coffin-Lowry syndrome. AJMG 95:93-98, 2000. [PubMed: 11078556]
    The patient was 48 years old.
    46,XY,del(10)(q25.1q25.3)de novo.
    Aberration: Interstitial deletion
    MIM#: 303600
    Chromosomal Aneuploidy: 10q-
    No band