PubMed · 11057255
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Y Tomita. 2000. [Down syndrome].. https://pubmed.ncbi.nlm.nih.gov/11057255/
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Using the NDB database, we calculated geometrical parameters that were needed to reproduce crystal structures of short DNA fragments in a phosphorus atom representation. The geometrical parameters were included in a software generating tertiary structures of, for example, the Escherichia coli and human chromosome 21 molecules of DNA whose complete nucleotide sequences are deposited in the EMBL and related databases. Both molecules were found to be heavily folded and composed of domains. A more elaborate version of the present approach will make analysis and comparison possible of tertiary structures of genomic DNA molecules of various chromosomes to identify the chromosome evolutionary and functional relationships.
A child with Kostmann syndrome, or severe congenital neutropenia, developed myelodysplastic syndrome after 6 years of treatment with rhG-CSF. The bone marrow karyotype showed acquired trisomy 21, and in some cells pentasomy 21 due to two isodicentric chromosomes 21. This is the second report of a patient with Kostmann syndrome and acquired trisomy 21.