000			03059cam a2200325 a 4500
003			EG-GiCUC
008			210324s2021 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aM.Sc
099			_aCai01.11.28.M.Sc.2021.Na.I
100	0		_aNahed Naguib Mohamed Alsabagh
245	1	0	_aIncidence of pediatric chromosomal abnormalities diagnosed by karyotyping at genetic clinic of Cairo University / _cNahed Naguib Mohamed Alsabagh ; Supervised Hala Ahmed Elgindy , Mohammed Farouk Mohamed , Walaa Alsharany Abuelhamd
246	1	5	_aحالات التشوهات الصبغى عند الاطفال المشخصه بواسطه النمط النووى فى العياده الوراثيه بجامعه القاهرة
260			_aCairo : _bNahed Naguib Mohamed Alsabagh , _c2021
300			_a148 P . : _bcharts , facsmilies ; _c25cm
502			_aThesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
520			_aIntroduction: Cytogenetic studies are very important tools for diagnosis of genetic disorders to provide best possible management and counselling. Chromosomal abnormalities constitute a major category of genetic disorders. These abnormalities can be numerical or structural. They may involve one or more chromosomes or even only a part of a chromosome. Objective: This study aims to describe the cytogenetic profile of all children with suspected genetic disorders referred to genetic unit at Cairo University Children Hospital. Patients and methods: This was Retrospective Record-based descriptive study which was done for all cases referred to Genetic Unit of Cairo University Children Hospital (CUCH) over one year from 2018 to 2019. Results: A total of 600 cases who were referred for Karyotyping; the prevalence of chromosomal abnormalities was found to be 49.9% in all these cases. Numerical abnormalities represented the major category of chromosomal abnormalities found (39.6%), followed by structural abnormalities (10.1%). The present study revealed that Down syndrome (DS) (trisomy 21) was the most common chromosomal abnormality detected (70.2%). Chromosomal nondysjunction was the main cause of DS (90.4%), followed by translocation (6.1%), and mosaic type (2.3%). In this study the median of maternal age of Down syndrome was 34 years and ranged between 17 and 47 years with statistically significant difference between Down syndrome cases and other syndromes found with P value <.05. Syndromic classification of the studied children shows Trisomy 13 (6.4%), followed by Turner (5.7%), Edward syndrome (4.3), Noonan syndrome (1.7%), Klienfilter (1.3%)
530			_aIssued also as CD
653		4	_aChromosomal abnormalities
653		4	_aGenetic disorders
653		4	_aKaryotyping
700	0		_aHala Ahmed Elgindy , _eSupervisor
700	0		_aMohammed Farouk Mohamed , _eSupervisor
700	0		_aWalaa Alsharany Abuelhamd , _eSupervisor
905			_aAmira _eCataloger
905			_aNazla _eRevisor
942			_2ddc _cTH
999			_c80351 _d80351