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Three cases of trisomy 13 mosaicism and a review of the literature
Author(s) -
Delatycki M.,
Gardner R. J. M.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02499.x
Subject(s) - trisomy , phenotype , aneuploidy , biology , genetics , down syndrome , normality , karyotype , chromosome , medicine , gene , psychiatry
We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.