TS Demographic Information Dataset in Turner Syndrome: Genotype and Phenotype

Data from the Demographic Information form
Study Description
Turner syndrome (TS) is a sporadic disorder affecting ~ 1/2500 live female births, caused by the absence of all or significant parts of one sex-chromosome. Developmental consequences include severe short stature, ovarian failure and distinctive cognitive and behavioral traits, sometimes with renal and cardiovascular defects. Adults with TS have excessive rates of osteoporosis, hypertension and diabetes mellitus, and high rates of morbidity and mortality. This study aims to correlate TS phenotypes and genotypes, to identify X-chromosome genes and epigenetic mechanisms causing the different features of TS. For TS subjects with a 45X genotype, the parental origin of the single normal X-chromosome will be traced. X chromosomal structural defects will be analyzed in relation to data from the Human Genome Project. The elucidation of genetic mechanisms in TS will help improve the diagnosis and treatment of girls and women with this disorder and further our understanding of gene dosage effects in general. Phenotypic females at least 10 years of age, with evidence of X-chromosomal abnormality. Those with a karyotype of 45X/46XX having at least 80% 45X lymphocytes. Parents of TS subjects include only biological parents of a TS subject.

人口统计学信息表单数据

研究概况

特纳综合征（Turner syndrome, TS）是一种散发性疾病，发病率约为每2500名活产女婴中发生1例，由一条性染色体全部或大部分缺失所致。该疾病的发育相关结局包括严重身材矮小、卵巢功能衰竭，以及特征性认知与行为特征，部分患者还可伴随肾脏与心血管缺陷。特纳综合征成年患者的骨质疏松症、高血压及糖尿病患病率显著升高，且总体发病率与死亡率均处于较高水平。

本研究旨在明确特纳综合征表型与基因型之间的关联，筛选出导致该疾病各类临床表现的X染色体基因及表观遗传调控机制。针对核型为45X的特纳综合征受试者，本研究将追溯其单条正常X染色体的亲本来源；同时将结合人类基因组计划（Human Genome Project）的数据，分析受试者的X染色体结构缺陷情况。

阐明特纳综合征的遗传机制，不仅有助于优化该疾病女童与成年女性患者的诊疗方案，还能推动我们对全基因组基因剂量效应的整体认知。

本研究的入组标准如下：表型为女性，年龄≥10岁且经检测存在X染色体异常；对于核型为45X/46XX的受试者，其外周血中45X核型淋巴细胞占比需≥80%；受试者父母限定为特纳综合征患者的亲生父母。