A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp

Cancer Genet Cytogenet. 2003 Nov;147(1):75-7. doi: 10.1016/s0165-4608(03)00197-3.

Abstract

A 3-year, 9-month-old girl with trisomy 21 was diagnosed with acute lymphoblastic leukemia (ALL). The karyotype of her leukemic cells at diagnosis-48,XX,+i(X)(p10),+21c-included an extra, structurally abnormal X chromosome as the sole acquired abnormality. While an extra X chromosome is a common abnormality in childhood ALL, it is seldom the only acquired aberration. Furthermore, an additional X chromosome that is structurally abnormal is rare, and has not been reported previously as a solitary abnormality. Here we report a novel karyotype in childhood ALL and review the eight previously described cases of ALL with an extra X isochromosome as the only acquired abnormality.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, X / genetics*
  • Down Syndrome / complications
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Isochromosomes / genetics*
  • Karyotyping
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / complications
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*