10q233

10q23.3

Publication Details

  • Same entry as in 0Xq26.3 (Waters et al, 2001).

  • Varda N M, Kokalj Vokac N, Kanic Z, Bracic K, Erjavec A, Zagradisnik B, Gregoric A.: Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q. AJMG DOI=10.1002/ajmg.a.20295;123A:164-168, 2003. [PubMed: 14598340]
    46,XY,der(13)t(10;13)(q23.3;q34)de novo.
    The infant had IUGR, dysmorphci facial appearance, abnormalities of the extremities, and renal, ocular and genital anomalies.
    The breakpoint was between RP11-402D21 and RP11-7D5 on 10q23.3 and nbetween RP11-120J20 and RP11-75F3 on 13q34.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q+;13q-
    Index Terms: Early renal insufficiency