A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp.
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.
Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
Jillian M
JM
Baker
Max J
MJ
Coppes
Birgitte
B
Roland
D002675:Child, Preschool; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications / Q000235:genetics*