Tetrasomy 18p is a rare disorder due to a supernumerary metacentric small chromosome identified as an isochromosome 18p. Setting of cytogenetic molecular techniques has permitted to confirm this syndrome in many cases; in fact today is thought that this syndrome has a distinct phenotype. We report a new case of tetrasomy 18p syndrome confirmed by in situ hybridization, characterized from severe clinical features and from the presence of megaepiglottis, never reported in other patients.
A severe form of the tetrasomy 18p syndrome confirmed by in situ hybridization
Concolino D.;
1998-01-01
Abstract
Tetrasomy 18p is a rare disorder due to a supernumerary metacentric small chromosome identified as an isochromosome 18p. Setting of cytogenetic molecular techniques has permitted to confirm this syndrome in many cases; in fact today is thought that this syndrome has a distinct phenotype. We report a new case of tetrasomy 18p syndrome confirmed by in situ hybridization, characterized from severe clinical features and from the presence of megaepiglottis, never reported in other patients.File in questo prodotto:
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