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Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

✍ Scribed by Rogan, Peter K. ;Close, Pamelyn ;Blouin, Jean-Louis ;Seip, James R. ;Gannutz, Lee ;Ladda, Roger L. ;Antonarakis, Stylianos E.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
901 KB
Volume
59
Category
Article
ISSN
0148-7299

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We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirrorsymmetric appearance with the mirror axis at the breakpo