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Case Reports
. 1973 Jun;10(2):177-9.
doi: 10.1136/jmg.10.2.177.

Down's syndrome with 47,XX,+21-47,XX,+mar mosaicism

F M Weber, R S Sparkes, H Muller
Case Reports

Down's syndrome with 47,XX,+21-47,XX,+mar mosaicism

F M Weber et al. J Med Genet. 1973 Jun.

Abstract

A four-year-old girl with typical Down's syndrome is described. She has 47,XX,+21 karyotype in skin and lymphocytes and 47,XX,+mar karyotype in some lymphocytes. Autoradiography and fluorescent analyses have failed to identify the +mar chromosome which has the appearance of a `D' chromosome but which may involve a translocation to a chromosome No. 21. However, the mechanisms of its formation and its significance are not certain.

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References

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