%0 Journal Article
%T S赤ndrome 18 q -heredado
%A Manuela Herrera Mart赤nez
%A Orlando P谷rez Gonz芍lez
%A Ana Esther Algora Hern芍ndez
%A Mar赤a Elena de la Torre Santos
%J Revista Cubana de Pediatrˋ-a
%D 1997
%I Editorial Ciencias M谷dicas
%X Se presenta el hallazgo de una monosom赤a 18q-heredada por translocaci車n materna (3q, 18q), en un ni o de 4 a os de edad con las caracter赤sticas cl赤nicas t赤picas, que presenta retraso mental y patr車n dism車rfico facial. Se realiz車 la correlaci車n fenotipo-cariotipo, y el 芍rbol geneal車gico de la familia. Se comparan los hallazgos del paciente con otros informados en la literatura m谷dica y se enfatiza en el inter谷s gen谷tico del estudio cl赤nico y citogen谷tico de los padres. 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 DELECCI車N CROMOS車MICA
%K ANOMAL赤AS CROMOS車MICAS
%K CROMOSOMAS HUMANOS PAR 18
%K TRANSLOCACI車N (GEN谷TICA)
%K CARIOTIPIFICACI車N
%K FENOTIPO
%K LINAJE
%K CHROMOSOME DELECTION
%K CHROMOSOME ABNORMALITIES
%K CHROMOSOMES HUMAN
%K PAIR 18
%K TRANSLOCATION (GENETICS)
%K KARYOTYPING
%K PHENOTYPE
%K PEDIGREE
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75311997000200004