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Klinefelter's and Down's syndrome in an adolescent with abnormal EEG
Author(s) -
Efinski D.,
Duma H.,
Apostolovski B.,
Sofijanov N.,
Ristevski B.,
Darkovski S.
Publication year - 1974
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.1399-0004.1974.tb01665.x
Subject(s) - klinefelter syndrome , aneuploidy , epilepsy , electroencephalography , medicine , pediatrics , psychology , down syndrome , audiology , psychiatry , genetics , biology , chromosome , gene
A case of concurrent Klinefelter's and Down's syndromes in an adolescent boy is presented. Cytogenetic study confirmed double aneuploidy (48, XXY,21+). The patient had epilepsy, a feature uncommon in Down's syndrome, but more frequently seen in Klinefelter's syndrome. The EEG revealed a spike focus. Thus, the genotypic constitution has produced a phenotype with signs of both syndromes expressed.