Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations...
Turner syndromeis characterized by complete or partial loss of the secondsex chromosome.Turner syndromeis one of the most commonchromosomal abnormalities. Approximately half of Turner syndrome women have a 45,Xkaryotype, 15% are mosaic for a second normal 46,XX cell population, and the remaining ...
Turner syndrome refers to females with an absent or structurally deficient second X chromosome, with great variation in the specific karyotypes. Although there are several common physical features such as short stature, ovarian insufficiency, and cardiovascular, skeletal, and renal defects, there is ...
Table 1. Turner syndrome karyotypes Brief clinical description The features of Turner syndrome include characteristic physical features and complete or partial absence of the second sex chromosome. Phenotypic features vary widely but commonly include short stature, ovarian failure, edema of hands or feet...
turner syndromeX-chromosomeTurner Syndrome is a genetic syndrome in which a woman lacks one X chromosome, giving a karyotype of 45XO, or, alternately, a mosaic genotype with both 45XO and normal 46XX cells. Physical features include short stature, failure or reduction in secondary sex ...
Turner Syndrome Diagnosis If an ultrasound shows something abnormal while you’re pregnant, your doctor may want to examine your baby’s chromosomes with a test called karyotype. This test compares chromosomes by lining them up. To get samples from you, your doctor may recommend: Amniocentesis. ...
Turner综合征(Turner syndrome,TS)并发马德隆畸形、复杂短指症在临床上是很少见的,再合并强直性脊柱炎(ankylosing spondylitis,AS)则更为罕见。报告1例36岁女性患者,因反复腰背、髋、膝疼痛11年,加剧1个月,以"强直性脊柱炎"收住入院,入院后因身高矮小、第二性征发育不良、肢体畸形等,行染色体核型示"46,X,i(Xq...
The day-night rhythms of serum melatonin (MEL) were investigated in 10 subjects with Turner syndrome,aged 2-17 years.Five had karyotype 45 XO,4 had 45 XO/46 XX and one 45 XO/46XX/47XXX mosaicism.Serum MEL concentrations were determined according to the RIA procedure of Rollag and ...
identification is important not only for clinical care,but also for understanding phenotype-karyotype correlations. 【Key words】 Turner syndrome Marker chromosome Fluorescence in situ hybridizationPolymerase chain reaction 约半数Turner综合征患者伴有X染色体结构畸变,或为性染色体数目、结构畸变的嵌合体,嵌合体...
[4]Maciejewska-Jeske M,Czyzyk A,Meczekalski B.The Turner syndrome in patient with 45X/47XXX mosaic karyotype-case report[J]. Gynecol Endocrinol,2015,31(7):526-528. DOI: 10. 3109/09513590.2015.1018164. [5]Bodri D,Vernaeve V,Figueras F,et...