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Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
Author(s) -
Kleczkowska A.,
Fryns J. P.,
Buttiens M.,
Bisschop F. de,
Emmery L.,
Berghe H. Van den
Publication year - 1986
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.1399-0004.1986.tb01918.x
Subject(s) - isochromosome , tetrasomy , trisomy , genetics , biology , aneuploidy , chromosome , karyotype , gene
In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.