New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome

@article{MiguelNeto2016NewAT,
  title={New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome},
  author={Jamil Miguel-Neto and Annelise Barreto de Carvalho and Antonia P. Marques-de-Faria and Gil Guerra‐J{\'u}nior and Andr{\'e}a Trevas Maciel-Guerra},
  journal={Journal of Pediatric Endocrinology and Metabolism},
  year={2016},
  volume={29},
  pages={475 - 479}
}
Abstract Background: Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. Methods: The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the… 
New insight into clinical features, karyotypes and age at diagnosis in women with Turner Syndrome.
TLDR
The prevalence of the majority of clinical manifestations of Turner Syndrome does not differ between TS-women with 45,X monosomy and non-45,X karyotypes and the age at final TS diagnosis.
Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
TLDR
It is speculated that the differences in skeletal anomalies and height correlations between Xm and Xp groups could be due to the modifying effect of epigenetic signature on short stature homeobox (SHOX) gene of Xm, thereby explaining the paucity of skeletal changes and height correlation in Xp subjects.
Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
TLDR
Though short stature, pubertal delay and typical stigmata should prompt investigation of TS, lack of one of these features should not exclude this hypothesis, which set of features may help discriminate those with TS.
Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.
TLDR
Differences in prevalence of dysmorphic features were found between girls and women with Turner syndrome and a strong association was found between monosomy 45,X and the phenotypic patterns.
Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.
TLDR
The results of the study showed the consistency of short stature and delayed puberty in most of patients, and no remarkable difference was found among classical and non-classical TS patients' height.
45,X mosaicism in a population-based biobank: implications for Turner syndrome
TLDR
The limited UK Biobank data set did not include consistent data on diagnoses that are highly relevant to TS, such as primary amenorrhea, or cardiovascular phenotypes including bicuspid aortic valve, coarctation, and coronary artery disease, which are primary drivers of the markedly increased rate of cardiovascular mortality in TS women.
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood.
TLDR
It is suggested that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.
Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening
TLDR
The 45, X karyotype is associated with the highest prevalence of BAV and the presence of the 45,X cell line in any mosaic karyotypes increases the probability of B AV.
The Turner syndrome life course project: Karyotype‐phenotype analyses across the lifespan
TLDR
The aim of this study was to extend the established karyotype‐phenotype relationships using data from a large adult cohort to study the relationship between karyotypes and phenotypes in Turner syndrome.
Turner syndrome and pituitary adenomas: a case report and review of literature
TLDR
Sequential gonadotropin measurements demonstrate the evolution of hypergonadotropic hypogonadism into hypog onadotropic Hypogon adenoma due to hemorrhagic pituitary macroadenoma in an adolescent with Turner syndrome.
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