{Reference Type}: Journal Article
{Title}: Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.
{Author}: Wang G;Liu X;Wang M;Wang J;Zhang Z;Allegaert K;Mei D;Zhang Y;Luo S;Fang Y;Li D;Chen Y;Wei H;
{Journal}: Front Endocrinol (Lausanne)
{Volume}: 15
{Issue}: 0
{Year}: 2024
{Factor}: 6.055
{DOI}: 10.3389/fendo.2024.1324160
{Abstract}: <B>UNASSIGNED: </B>Analyze the relationship between changes in the proportion of X-chromosome deletions and clinical manifestations in children with Turner syndrome (TS).<BR><B>UNASSIGNED: </B>X-chromosome number abnormalities in 8,635 children with growth retardation were identified using fluorescence in situ hybridization (FISH). Meanwhile, the relationship between the proportion of X-chromosome deletions and the clinical manifestations of TS, such as face and body phenotype, cardiovascular, renal, and other comorbidities in children with TS was analyzed.<BR><B>UNASSIGNED: </B>A total of 389 children had X-chromosome number abnormalities, with an average age at diagnosis of 9.2 years. There was a significant increase in diagnoses around the ages of 3 and 7 years and highest number of diagnoses at 10 years of age. 130 with XO (complete loss of an X-chromosome), 205 with XO/XX, 8 with XO/XXX, 23 with XO/XX/XXX, 19 with XO/XY, and 4 with XO/XY/XYY. Body and facial phenotypes increased with higher mosaicism proportions, with a relatively high correlation shown with Pearson correlation analysis (r = 0.26, p = 1.7e-06). The incidence of congenital heart malformations was 25.56%, mainly involving a bicuspid aortic valve, and were more common in patients who had complete loss of an X-chromosome. However, this relationship was not present for renal disease (p = 0.26), central nervous system, thyroid, or liver disease.<BR><B>UNASSIGNED: </B>The mosaicism (XO/XX) is the most common karyotype of TS in screened cases. The phenotypes in children with TS may increase with the proportion of X-chromosome deletions, but the renal disease and comorbidities did not show the same characteristics.