-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome
نویسندگان
چکیده
منابع مشابه
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
BACKGROUND AND PURPOSE X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and pec...
متن کاملGitelman's syndrome with mental retardation.
A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS). We examined the thiazide-sensitive Na-Cl ...
متن کاملThe First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclus...
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Persons with mental retardation represent 1 to 2% of the worldwide population. Due to their suggestive behavior and ingenuousness, these persons tend to be vulnerable to violence in all its forms. Nevertheless, difficulties concerning impulse control and lack of judgment contribute to disruptive and maladaptive behaviors in some of them. These misbehaviors may include sexual violence, thefts, p...
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Historical Perspective The plight of individuals with developmental disabilities has been dependent on the customs and beliefs of the era and the culture or locale. In ancient Greece and Rome, infanticide was a common practice. In Sparta, for example, neonates were examined by a state council of inspectors. If they suspected that the child was defective, the infant was thrown from a cliff to it...
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ژورنال
عنوان ژورنال: Cold Spring Harbor Perspectives in Medicine
سال: 2012
ISSN: 2157-1422
DOI: 10.1101/cshperspect.a011759