منابع مشابه
A patient with 45XO-48XYYY mosaicism.
Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...
متن کاملP56: A Case Report on a New Aicardi-Goutieres Syndrome Inducing Gene
Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...
متن کاملHaematemesis: a new syndrome?
Three patients presented with symptoms suggesting a Mallory-Weiss tear. Endoscopy showed a localized, clearly demarcated area of bright red mucosa near the gastro-oesophageal junction; this was thought to have arisen by retrograde intussusception of the stomach during vomiting or retching and may have caused the haemorrhage.
متن کاملA New Syndrome
1 Eichna LW, Horvath SM, Bean WB. Cardiac asystole in a normal young man following physical effort. Am Heart J 1947; 33:254-62 2 Schlesinger I. Life-threatening 'vagal reaction' to physical fittness test [letter]. JAMA 1973; 226:1119 3 Fleg JL, Asante AV. Asystole following treadmill exercise in a man without organic heart disease. Arch Intern Med 1983; 143:1821-22 4 Huycke EC, Card HG, Sobol S...
متن کاملA new ocular syndrome.
Case Report A 33-year-old woman had been generally well and had had no eye troubles until she suddenly became aware that she could not focus on print clearly when she picked up the newspaper one evening. During the next 3 weeks, before her admission to hospital, her vision became slightly more blurred, both for distance and near. She also was troubled by glare and for a few days after her initi...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1972
ISSN: 1468-6244
DOI: 10.1136/jmg.9.3.356