نتایج جستجو برای: fragile x syndrome

تعداد نتایج: 1201318  

اشرف زاده, فرح, عباس زادگان, محمدرضا, قائمی, نصرت,

  Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...

عاملی, حسین, درویشی, کتایون , کریمی نژاد, رکسانا ,

 ABSTRACT The fragile X syndrome is the most frequent cause of inherited mental retardation. The fragile site is on the long arm of X chromosome in X q27.3 region. Incidence of syndrome is 1 in 2000 in males and 1 in 2500 in females. This fragile site is visible only with using of special cultural technices. Since females have two X chromosomes, this signs apear less than males. The females who...

Afagh Hassanzadeh Rad, Fatemeh Kharaee, Mahsa Karambin, Maryam Shahrokhi, Reza Bayat, Saber Najafi Chakoosari, Setila Dalili, Shahin Koohmanaee,

Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

Journal: :American journal on intellectual and developmental disabilities 2012
Leann E Smith Erin T Barker Marsha Mailick Seltzer Leonard Abbeduto Jan S Greenberg

The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n  =  30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n  =  106) and (b) individuals diagnosed with autism (but not fragile X syndrome; n  =  135) on measures of autism symptoms, ...

Fahimeh Mirzaei, Maryam Mahmoudi, Mohammad Hossein Mahmoodi Meymand, Pouria Yazdian-Anari, Reza Bidaki, Seyed-Ali Mostafavi,

Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...

Journal: :iranian journal of diabetes and obesity 0
seyed-ali mostafavi phd candidate, psychiatry research center, roozbeh hospital, tehran university of medical sciences, tehran, iran. pouria yazdian-anari yazd student research committee, shahid sadoughi university of medical science, yazd, iran. maryam mahmoudi medical student. rafsanjan university of medical sciences, rafsanjan, iran. fahimeh mirzaei medical student. rafsanjan university of medical sciences, rafsanjan, iran. reza bidaki md. assistant professor of psychiatry. department of psychiatry, research center of addiction and behavioral sciences, shahid sadoughi university of medical sciences, yazd, iran. mohammad hossein mahmoodi meymand medical student. rafsanjan university of medical sciences , rafsanjan, iran.

objective: fragile x syndrome is the second etiology for inherited mental retardation. it may concomitant with other psychiatric disorders. intellectual disability (id) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. we intend to introduce a male young patient with fragile x syndrome and obsessive-compulsive d...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1995

Journal: :Pediatric Neurology Briefs 1989

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