Turner S Syndrome
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma
It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses
Braz J Med Biol Res. Publicado em: 25/07/2014
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2. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, convention
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-05
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3. Validation of social sills in Turner Syndrome women / Avaliação das habilidades sociais na Sindrome de Turner
Tendo em vista que vários estudos indicam dificuldades psicossociais em pacientes com síndrome de Turner (ST), este estudo objetivou avaliar as habilidades sociais (HS) em uma amostra dessa população. Foram avaliadas 52 pacientes (15 a 35 anos), 33 irmãs de pacientes (16 a 43 anos) e 30 mães, com Inventário de HS (IHS-Del-Prette) e entrevista individu
Publicado em: 2008
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4. InvestigaÃÃo cromossÃmica e molecular em pacientes com sÃndrome de Turner
A sÃndrome de Turner (ST) que resulta de uma alteraÃÃo cromossÃmica caracterizada pela perda parcial ou total do segundo cromossomo sexual. Essa sÃndrome afeta exclusivamente o sexo feminino, possuindo como principais alteraÃÃes clÃnicas a baixa estatura, disgenesia gonadal, atraso no desenvolvimento das caracterÃsticas sexuais secundÃrias feminina
Publicado em: 2008
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5. Análise molecular do gene FOXL2 em mulher com síndrome blefarofimose ptose epicanto inverso com falência ovariana prematura
Premature ovarian failure (POF) is a disorder with very important repercussions for woman life, either regarding the end of reproductive lifespan or the consequent estrogenic hormonal deficiency. The number of POF causes is quite a lot, including infectious diseases as well as immunologyc, iatrogenic and genetic disorders. Since the advances in past decades
Publicado em: 2007
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6. Frequencia das principais mutações no gene da cistationina beta sintetase em portadoras de sindrome de turner e mães de portadores de Sindrome de Down
The most common class of chromosome abnormality is Down Syndrome (DS) and Turner Syndrome (TS). Several investigators have reported that mutations in the metabolic homocysteine enzymes are associated with increased risk of chromosome abnormality due the hypometilation phenomena. The main enzymatic regulators in the metabolism of the homocystheine are Cystath
Publicado em: 2003
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7. Cardiovascular malformations in Turner's and Noonan's syndrome.
The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial
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8. Analysis of the origin of Turner's syndrome using polymorphic DNA probes.
Thirty-four families with a child or fetus with Turner's syndrome were studied using a series of polymorphic DNA probes. Analysis of the origin of the normal X chromosome was possible in all cases. In 16 families with 45,X (four fetuses and 12 livebirths), the observed X was maternal in each case, indicating a preferential loss of the paternal sex chromosome
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9. Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes.
The human sex-linked genes RPS4X and RPS4Y encode distinct isoforms of ribosomal protein S4. Insufficient expression of S4 may play a role in the development of Turner syndrome, the complex human phenotype associated with monosomy X. In mice, the S4 protein is encoded by an X-linked gene, Rps4, and is identical to human S4X; there is no mouse Y homolog. We r
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10. Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a
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11. Ol-Prx 3, a member of an additional class of homeobox genes, is unimodally expressed in several domains of the developing and adult central nervous system of the medaka (Oryzias latipes)
Large-scale genetic screens for mutations affecting early neurogenesis of vertebrates have recently been performed with an aquarium fish, the zebrafish. Later stages of neural morphogenesis have attracted less attention in small fish species, partly because of the lack of molecular markers of developing structures that may facilitate the detection of discret
The National Academy of Sciences of the USA.