Chromosome 22q11.2 microdeletion among a cohort of Egyptian patients with tetralogy of fallot / (Record no. 62902)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02924cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031824.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171014s2017 ua dh f m 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GiCUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GiCUC |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposite |
| 097 ## - Thesis Degree | |
| Thesis Level | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.M.Sc.2017.Re.C |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Reham Elsayed Eissa |
| 245 10 - TITLE STATEMENT | |
| Title | Chromosome 22q11.2 microdeletion among a cohort of Egyptian patients with tetralogy of fallot / |
| Statement of responsibility, etc. | Reham Elsayed Eissa ; Supervised Heba Hassan Abouelew , Nevine Bahaa Fouad , Yasser Mohamed Sedky |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | فى 22مجموعة من المرضي المصريين المصابين برباعي فالوت q11.2المحو الدقيق للكروموسوم |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Reham Elsayed Eissa , |
| Date of publication, distribution, etc. | 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 151 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. An extreme variant of TOF, pulmonary atresia (PA) occurs with ventricular septal defect (VSD). 22q11.2 deletion is the most frequent associated genetic anomaly in TOF specially PA-VSD variant. Determining the genetic etiology of TOF will not only help in understanding the mechanism of this disease but also in identifying genotype-phenotype correlations. The aim of the present study was to assess the prevalence of 22q11.2 microdeletion among a cohort of 25 non-operated Egyptian patients with the extreme variant of the anatomic spectrum of TOF by fluorescence in situ hybridization (FISH), and to evaluate its effect on cardiac morphology as measured by echocardiography. Clinical examination of the studied patients revealed no congenital anomalies, behavioural or learning disabilities. 22q11.2 microdeletion was detected in 2/25 (8%) of studied patients, both had negative family history of similar disease and negative consanguinity. Both 22q11.2-deleted patients had right-sided aortic arch and patent ductus arteriosus (PDA). Only one 22q11.2-deleted patient had major aortopulmonary collateral arteries (MAPCAs). Nakata index of the two 22q11-deleted patients was 49.51 and 78.51 mm2/m2. Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling, planning surgical procedures, and determining post-operative management strategies in TOF. |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | 22q11.2 microdeletion |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Fluorescence in situ hybridization |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Tetralogy of Fallot |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heba Hassan Abouelew , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nevine Bahaa Fouad , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yasser Mohamed Sedky , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Nazla |
| Reviser | Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Shimaa |
| Reviser | Cataloger |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.11.07.M.Sc.2017.Re.C | 01010110072989000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.M.Sc.2017.Re.C | 01020110072989000 | 22.09.2023 | CD - Rom | 72989.CD |