نتایج جستجو برای: fragile
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Fragile X syndrome, second only to Down syndrome among etiologies of mental retardation, was discussed. Clinical, intellectual, and anthropometric characteristics from 67 fragile X positive males, 35 fragile X positive females, and 27 obligate carriers among 29 families was presented. Regression analysis showed little correlation between level of intellect and frequency of fragile sites. The me...
Patient Selection Criteria Coverage eligibility will be considered for fragile X mental retardation 1 (FMR1) mutations the following patient populations: Individuals of either sex with intellectual disability, developmental delay, or autism spectrum disorder (see Policy Guidelines ◊ ). Prenatal testing of fetuses of known carrier mothers (see Policy Guidelines ◊ ). Affected individuals or...
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X sy...
Chromosome results obtained from 1012 patients referred with developmental delay without known cause within the three years 1985 to 1987 are reported. G banding analysis and assessment of 70 cells for fragile X gave abnormal results in 84 cases: fragile X in 31 patients and other abnormalities in 53 patients. A further 16 sibs expressing the fragile X were detected in family studies originating...
The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of ...
Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the disorder, we evaluated 73 boys (36 with fragile X and 37 same-age boys who were fragile X negative) using a checklist that we devised to lea...
The timing of DNA replication in the Xq27 portion of the human X chromosome was studied in cells derived from normal and fragile X males to further characterize the replication delay on fragile X chromosomes. By examining a number of sequence-tagged sites (STSs) that span several megabases of Xq27, we found this portion of the normal active X chromosome to be composed of two large zones with di...
Social skills impairment in children with Turner or fragile X syndrome has been documented using parental reports. Anxiety, shyness, and difficulty understanding social cues have been reported for females with Turner syndrome; whereas social withdrawal, avoidance of social interactions, and anxiety are often reported for females with fragile X syndrome. Social interaction anxiety in these two p...
It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation being studied. Over the past few years, studies evaluating the effects of the polymorphic CGG trinucleotide repeat on the FMR1 gene underlying ...
Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene-1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a de...
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