MARC details
| 000 -LEADER |
|---|
| fixed length control field |
03059cam a2200325 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
EG-GiCUC |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
210324s2021 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 |
Cai01.11.28.M.Sc.2021.Na.I |
| 100 0# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Nahed Naguib Mohamed Alsabagh |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Incidence of pediatric chromosomal abnormalities diagnosed by karyotyping at genetic clinic of Cairo University / |
| Statement of responsibility, etc. |
Nahed Naguib Mohamed Alsabagh ; Supervised Hala Ahmed Elgindy , Mohammed Farouk Mohamed , Walaa Alsharany Abuelhamd |
| 246 15 - VARYING FORM OF TITLE |
|---|
| Title proper/short title |
حالات التشوهات الصبغى عند الاطفال المشخصه بواسطه النمط النووى فى العياده الوراثيه بجامعه القاهرة |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Place of publication, distribution, etc. |
Cairo : |
| Name of publisher, distributor, etc. |
Nahed Naguib Mohamed Alsabagh , |
| Date of publication, distribution, etc. |
2021 |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
148 P . : |
| Other physical details |
charts , facsmilies ; |
| Dimensions |
25cm |
| 502 ## - DISSERTATION NOTE |
|---|
| Dissertation note |
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
Introduction: 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 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE |
|---|
| Additional physical form available note |
Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Chromosomal abnormalities |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Genetic disorders |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Karyotyping |
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Hala Ahmed Elgindy , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Mohammed Farouk Mohamed , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Walaa Alsharany Abuelhamd , |
| Relator term |
|
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) |
|---|
| Cataloger |
Amira |
| Reviser |
Cataloger |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) |
|---|
| Cataloger |
Nazla |
| Reviser |
Revisor |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
Dewey Decimal Classification |
| Koha item type |
Thesis |
