%0 Journal Article
%T S¨ªndrome 18 q -heredado
%A Herrera Mart¨ªnez
%A Manuela
%A P¨¦rez Gonz¨¢lez
%A Orlando
%A Algora Hern¨¢ndez
%A Ana Esther
%A de la Torre Santos
%A Mar¨ªa Elena
%A Gonz¨¢lez Oliva
%A Miriam
%J Revista Cubana de Pediatr£¿-a
%D 1997
%I Editorial Ciencias M¨¦dicas
%X it is presented the finding of an 18q-monosomy inherited by maternal translocation (3q, 18q) in a 4-year-old boy with the typical clinical characteristics, that is, mental retardation and facial dysmorphia pattern. the phenotype-karyotype correlation and the pedigree were made. the patient's findings are compared with others reported in the medical literature, and the genetical interest of the clinical and cytogenetic study of the parents is emphasized.
%K chromosome delection
%K chromosome abnormalities [genetics]
%K chromosomes human
%K pair 18 [genetics]
%K translocation (genetics) [genetics]
%K karyotyping
%K phenotype
%K pedigree.
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0034-75311997000200004&lng=en&nrm=iso&tlng=en