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- W314810035 abstract "Abstract . To screen children with idiopathic mental retardation (MR) using a clinical Ten-Item Checklist (TIC) and to analyzehigh-risk fragile X syndrome (FXS) cases by cytogenetic and molecular genetic techniques. This study was conducted on 192children with idiopathic MR enrolled from Pediatric clinics of University Hospitals and MR institutes of Alexandria, Mansouraand Benha Governorates, Nile Delta, Egypt (age range 2–14 years). Clinical scoring for patients was done using TIC according towhich patients were categorized either positive checklist withscore higher than 5 or negative with score less than 5. Positive casesunderwent cytogenetic analysis that provoke expression of fragile sites on chromosome X and molecular genetic analysis fordetection of permutation among cases or their 1st degree relatives. Analyzing all cases: IQ ranged from 30 to 80%, family historyof MR was found in 28.6% and consanguinity was positive in 26%. Positive checklist cases constituted 23.9% and remainder76.1% were negative checklist. The most frequent items in positive cases were large prominent ears, hyper-extensible fingerjoints, hyperactivity, and large narrow face with less common macro-orchidism. A positive linear association was found betweenlaboratory test positivity and TIC score being stronger with cytogenetic analysis compared to polymerase chain reaction (PCR)(P 0.001 and 0.02, respectively). Using TIC, 76.1% cases could be eliminated from the waiting list of genetics laboratories. Therelatively weaker association of TIC score to PCR compared to cytogenetic analysis together with areas under receiver operatingcharacteristic curve 0.743 and 0.814 respectively denote the higher accuracy and sensitivity of PCR analysis in final diagnosis ofFXS.Keywords: Fragile X syndrome, cytogenetics, molecular genetics, Egypt" @default.
- W314810035 created "2016-06-24" @default.
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- W314810035 date "2015-07-29" @default.
- W314810035 modified "2023-09-23" @default.
- W314810035 title "Screening of mentally handicapped Egyptian children for fragile X syndrome using clinical, cytogenetic and molecular approaches" @default.
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- W314810035 doi "https://doi.org/10.1055/s-0035-1557288" @default.
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