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Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths
Bastos, Raquel; Faculdade de Medicina. Universidade do Porto. Porto. Portugal.Introduction: Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.Material and Methods: Retrospective study of 401 ...
Défice cognitivo: até onde investigar?
Lopes, Andreia; Correia, Conceição; Guardiano, Micaela; Dória, Sofia; Júlia Guimarães, MariaO défice cognitivo atinge 1 a 3 % da população e tem múltiplas etiologias. Estima-se que as causas genéticas ocorram em cerca de 4 a 10% dos casos, pelo que se torna primordial a sua investigação. Descreve-se o caso de uma criança com défice cognitivo associado a dismorfias minor. Na primeira infância foi submetida a estudo etiológico alargado, sendo o défice cognitivo classificado como idiopático. Na reavaliaç...
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic impl...
Soares,Henrique; Maia,Ana; Campos,Miguel; Dória,Sofia; Lopes,José Manuel; Fontoura,ManuelCONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth ra...
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