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Trisomy 12p mosaicism syndrome
Author(s) -
KARKI C. B.,
WALTERS R. M.
Publication year - 1990
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1990.tb01517.x
Subject(s) - trisomy , aneuploidy , genetics , psychology , pediatrics , medicine , biology , chromosome , gene
. A case of trisomy 12p mosaicism originating de novo in a 21‐year‐old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arising de novo .