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Chromosome 22q11.2 microdeletion among a cohort of Egyptian patients with tetralogy of fallot / (Record no. 62902)

MARC details
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
Holdings
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