732 Turner Syndrome: A Clinico-Cytogenetic Study of 37 Children
نویسندگان
چکیده
منابع مشابه
cytogenetic study of turner syndrome in iran
turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abn...
متن کاملA clinical and cytogenetic study of Turner syndrome.
Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45...
متن کاملNijmegen Breakage Syndrome Clinico-cytogenetic Pattern
Here we report an 8 years old girl who had post natal growth deficiency, microcephaly, facial dysmorphism, partial syndactyly of the second and third toes, susceptibility to infections, leukocytosis, immunodeficiency, adenopathy, but now sign of telangiectasia, ataxia and in evolution developed malignancy. Chromosomal analysis showed anomalies. By combining clinical manifestations and laborator...
متن کاملCare of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.
OBJECTIVES The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). PARTICIPANTS The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute...
متن کاملAutoimmune thyroiditis in children with Turner syndrome.
PURPOSE To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome a...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2012
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2012-302724.0732