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Sex chromosomal mosaicism in the gonads of patients with disorders of sex development / (Record no. 49918)

MARC details
000 -LEADER
fixed length control field 02412cam a2200349 a 4500
003 - CONTROL NUMBER IDENTIFIER
control field EG-GiCUC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250223031157.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 150318s2014 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.2014.Sh.S
100 0# - MAIN ENTRY--PERSONAL NAME
Personal name Shereen Adel Abdelkader Sayed
245 10 - TITLE STATEMENT
Title Sex chromosomal mosaicism in the gonads of patients with disorders of sex development /
Statement of responsibility, etc. Shereen Adel Abdelkader Sayed ; Supervised Hoda Mohamed Abdelghany , Alaa Khalil Kamel , Manal Mohamed Makhlouf
246 15 - VARYING FORM OF TITLE
Title proper/short title الطراز الجينى المختلط فى الغدد الجنسية لمرضى خلل التكوين الجنسى
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Place of publication, distribution, etc. Cairo :
Name of publisher, distributor, etc. Shereen Adel Abdelkader Sayed ,
Date of publication, distribution, etc. 2014
300 ## - PHYSICAL DESCRIPTION
Extent 173 P. :
Other physical details 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. The phenotypic variability observed in DSD patients depends on many factors including the presence of SRY gene, the structural rearrangement and the presence of chromosomal mosaicism, especially 45, X cell line. The phenotypic sex strongly depends on the percentage of Y chromosome and 45, X cells in the developing gonads. The aim of work was to detect sex chromosomal mosaicism in gonads and to elucidate correlation between phenotype and karyotype of patients. We reported on ten patients with variable presentations of disorders of sex development (DSD) including ambiguous genitalia, primary amenorrhea and short stature. Conventional cytogenetics studies and fluorescence in situ hybridization (FISH) on peripheral blood and gonadal tissue was performed. Non mosaic chromosomal constitution in peripheral blood of five patients was detected, and five patients exhibited mosaic cell pattern associated with different types of sex chromosomal abnormalities including 45,X, isodicentric Y chromosome, X;Y translocation
530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE
Additional physical form available note Issued also as CD
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term DSD: Disorders of Sex Development
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Gonadal mosaicism
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term GTG banding
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Alaa Khalil Kamel ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Hoda Mohamed Abdelghany ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Manal Mohamed Makhlouf ,
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 Samia
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.2014.Sh.S 01010110064883000 22.09.2023 Thesis  
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة مخـــزن الرســائل الجـــامعية - البدروم 11.02.2024 Cai01.11.07.M.Sc.2014.Sh.S 01020110064883000 22.09.2023 CD - Rom 64883.CD