Otolaryngologic markers for the early diagnosis of Turner syndrome
نویسندگان
چکیده
منابع مشابه
Spontaneous puberty in girls with early diagnosis of Turner syndrome.
OBJECTIVE To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. SUBJECTS AND METHODS Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls ag...
متن کاملTurner syndrome: diagnosis and management.
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk...
متن کاملRecommendations for the diagnosis and management of Turner syndrome.
Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The...
متن کاملComparison of classical cytogenetics versus interphase FISH in diagnosis of mosaic form of Turner syndrome
Abstract Background: Mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. The present study was carried out to compare the efficiency of interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in detection of mosaic form of turner syndrome. Method...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Otorhinolaryngology
سال: 2009
ISSN: 0165-5876
DOI: 10.1016/j.ijporl.2009.08.005