Autosomal fragile site at 2q13 in a proband with mental retardation.
نویسندگان
چکیده
Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.
منابع مشابه
Genetic Causes of Mental Retardation in Bushehr Province
Objective: About 50% of severe to profound intellectual disabilities (ID) are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had...
متن کاملA clinical and cytogenetic study of institutionalized mental retardates.
One hundred and four out of 110 patients in a residential institution for mental retardates were examined clinically and cytogenetically. Both conventional and folate deficient media were employed in order to detect both conventional chromosomal abnormalities and rare fragile sites. Conventional abnormalities were detected in 18 cases (17%). Rare folate sensitive fragile site at 2q13 was detect...
متن کاملسندرم ایکس شکننده و گزارش 3 مورد (بررسی سیتوژنیک و ملکولی)
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...
متن کاملA survey of patients with mental retardation of unknown origin
Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...
متن کاملExpression of fragile X chromosome in human-rodent somatic cell hybrids.
The fragile X chromosome, associated with a common form of X-linked mental retardation, is cytologically observed most often as a gap or fragile site near the distal end of the long arm in band Xq28. Expression of this site is variable and dependent upon lowered thymidylate pools. In order to examine the behavior of this fragile site in a foreign genetic background, interspecific somatic cell h...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Hiroshima journal of medical sciences
دوره 39 1 شماره
صفحات -
تاریخ انتشار 1990