title: Duplication of 1q in a child with down syndrome and myelodysplastic syndrome.
abstract: Cytogenetic analysis of bone marrow cells was performed on a 2-year-old African-American male with Down syndrome (DS) and myelodysplastic syndrome (MDS), specifically refractory anemia with excess blasts in transformation (RAEB-T). Chromosome analysis showed, in addition to the constitutional trisomy 21, a trisomy of chromosome 11 and a dup(1)(q23q31). This duplication of 1q is apparently a new chromosomal abnormality in a child with MDS. Partial trisomy of the long arm of chromosome 1 has been reported by several authors and appears to represent a nonrandom chromosomal anomaly in patients with MDS/acute myelogenous leukemia and DS.
authors.affiliation: Department of Pathology, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.
authors.forename: M M
authors.initials: MM
authors.lastname: Blann
authors.forename: D L
authors.initials: DL
authors.lastname: Morgan
authors.forename: M
authors.initials: M
authors.lastname: Oblender
authors.forename: B
authors.initials: B
authors.lastname: Heinen
authors.forename: J
authors.initials: J
authors.lastname: Williams
authors.forename: V S
authors.initials: VS
authors.lastname: Tonk
mesh_terms: D000754:Anemia, Refractory, with Excess of Blasts / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008213:Lymphocyte Activation; D008297:Male