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Cytogenetic and molecular characterization of patients with 22q11.2 deletion syndrome / Khaled Mohamed Refaat Dakhly ; Supervised Hoda Mohamed Abdelghany , Rania Mohamed Samy , Mona Kamal Mekkawy

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Khaled Mohamed Refaat Dakhly , 2016Description: 148 P. : charts , facsimiles ; 25cmOther title:
  • (22q11,2)استخدام الطرق الوراثية الخلوية و الجزيئية فى تشخيص المرضى الذين يعانون من متلازمة النقص الجزئى لكروموسوم 22 [Added title page title]
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  • Issued also as CD
Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: 22q11.2 Deletion Syndrome (22q11.2 DS) is one of the most common genetic causes of learning disability. It is caused by hemizygous microdeletions on chromosome 22q11.2. The aim of the work was to detect 22q11.2 deletion in patients with phenotypes suggestive of the 22q11.2 deletion syndrome (cardiac, velopharyngeal, craniofacial) in order to reach accurate diagnosis for proper genetic counseling and further management. Cytogenetic and molecular analyses of 20 cases with 22q11.2 DS features were preformed by conventional cytogenetic analysis (CCA) and Fluorescence insitu hybridization (FISH). Multiplex Ligation Dependant Probe Amplification (MLPA) analysis was done for cases clinically suspected of being affected with 22q11.2 DS and showing no deletion by FISH analysis. CCA revealed two cases (10%) showing deletion in the 22q11.2 region. FISH revealed 4 cases (20%) showing 22q11.2 deletion. The results of MLPA analysis were concordant with the results of FISH analysis, as patients without detectable deletion (80%) showed no deletion using MLPA analysis. In conclusion CCA can diagnose 22q11.2 DS with large deletion. The cytogenetic diagnosis can be greatly improved by using FISH analysis, which detects typical deletion while atypical, or distal deletion can be detected by MLPA analysis
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2016.Kh.C (Browse shelf(Opens below)) Not for loan 01010110070712000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2016.Kh.C (Browse shelf(Opens below)) 70712.CD Not for loan 01020110070712000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

22q11.2 Deletion Syndrome (22q11.2 DS) is one of the most common genetic causes of learning disability. It is caused by hemizygous microdeletions on chromosome 22q11.2. The aim of the work was to detect 22q11.2 deletion in patients with phenotypes suggestive of the 22q11.2 deletion syndrome (cardiac, velopharyngeal, craniofacial) in order to reach accurate diagnosis for proper genetic counseling and further management. Cytogenetic and molecular analyses of 20 cases with 22q11.2 DS features were preformed by conventional cytogenetic analysis (CCA) and Fluorescence insitu hybridization (FISH). Multiplex Ligation Dependant Probe Amplification (MLPA) analysis was done for cases clinically suspected of being affected with 22q11.2 DS and showing no deletion by FISH analysis. CCA revealed two cases (10%) showing deletion in the 22q11.2 region. FISH revealed 4 cases (20%) showing 22q11.2 deletion. The results of MLPA analysis were concordant with the results of FISH analysis, as patients without detectable deletion (80%) showed no deletion using MLPA analysis. In conclusion CCA can diagnose 22q11.2 DS with large deletion. The cytogenetic diagnosis can be greatly improved by using FISH analysis, which detects typical deletion while atypical, or distal deletion can be detected by MLPA analysis

Issued also as CD

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