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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Duplication of 1q in a child with down syndrome and myelodysplastic syndrome
M M Blann1, D L Morgan, M Oblender
1Department of Pathology, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.
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.
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