10q242

10q24.2

Publication Details

  • Tonk V, Schneider N R, Delgado M R, Mao J I, Schultz R A.: Identification and molecular confirmation of a small chroosome10q duplication [dir dup(10)(q24.2->q24.3)] inherited from a mother mosaic for the abnormality. AJMG 61:16-20, 1996. [PubMed: 8741911]
    Case 1 and his sister case 2:
    46,XX or XY,der dir dup(10)(q24.2->q24.3)mat.,Mother:Lymphocyte-46,XX(90%)/46,XX,dir dup(10)(q24.2->q24.3).
    Case 1: The boy was referred at age 6 with a history of global developmental dealy and hypotonic weakness since birth.,Case 2: The 28-month-old also had delayed developmental landmarks.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 10q+
    Positive band