000			02951cam a2200349 a 4500
003			EG-GiCUC
005			20250223032041.0
008			180909s2018 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aPh.D
099			_aCai01.11.07.Ph.D.2018.Am.F
100	0		_aAmany Salah Eldeen Ahmed Mazen
245	1	0	_aFragile X syndrome : _bDiagnosis by molecular characterization of FMR 1 gene and clinical correlation / _cAmany Salah Eldeen Ahmed Mazen ; Supervised Hoda Mohamed Abdeighany , Eman Ahmed Ehssan , Menatalla Kamal Eldeen
246	1	5	_aالهشة X متلازمة : _b مع العلاقة الاكلينيكية FMR-1التشخيص بواسطة التوصيف الجزيئي لجين
260			_aCairo : _bAmany Salah Eldeen Ahmed Mazen , _c2018
300			_a152 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520			_aFragile X syndrome, the most common form of inherited intellectual disability, is caused by expansion of CGG trinucleotide repeat at the 5' untranslated region of the FMR1 gene at Xq27.The main clinical features of FXS are mental retardation, macro-orchidism, long face, prominent jaw, connective tissue abnormalities, and behavioral problems. In affected individuals, the CGG repeat expansion leads to hypermethylation and the gene is transcriptionally inactive. The main clinical features of FXS are mental retardation, macro-orchidism, long face, prominent jaw, connective tissue abnormalities, and behavioral problems.The present study represents an attempt to detect expected alleles for FMR 1 gene by methylation sensitive PCR based method with clinical correlation to the molecular characterization aiming to rapid screening of fragile X syndrome among patients with intellectual disability.The study included 50 male patients with intellectual disability and clinical features suggestive of fragile X syndrome. A control group of 50 healthy age matched volunteers were also conducted. All patients were subjected to full history taking including family history and thorough clinical examination using a 15-item checklist, karyotyping using GTG banding for the detection of concomitant numerical or structural chromosomal abnormalities. Molecular diagnosis for the detection of expanded alleles of the FMR1 gene using Methylation sensitive PCR technique after bisulfite treatment of DNA was applied
530			_aIssued also as CD
653		4	_aFMR1 gene
653		4	_aFragile X syndrome
653		4	_aIntellectual disability
700	0		_aEman Ahmed Ehssan , _eSupervisor
700	0		_aHoda Mohamed Abdeighany , _eSupervisor
700	0		_aMenatalla Kamal Eldeen , _eSupervisor
856			_uhttp://172.23.153.220/th.pdf
905			_aNazla _eRevisor
905			_aShimaa _eCataloger
942			_2ddc _cTH
999			_c67373 _d67373