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