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Deanship of Scientific Research
Document Details
Document Type
:
Project
Document Title
:
The application of chromosomal analysis of Patau's Syndrome in Jeddah area
تطبيقات التحاليل الوراثية للكروموسومات لمرض متلازمة بتاو في منطقة جدة.
Subject
:
The application of chromosomal analysis of Patau's Syndrome in Jeddah area
Document Language
:
Arabic
Abstract
:
Patau's Syndrome or Trisomy 13 is a rare genetic disorder that is caused by the presence of three copies of chromosome 13 instead of two copies in the affected individual cells. It occurs in 1/5000 births and it is the most severe of the viable autosomal trisomies. Eighty five percent of patients do not survive beyond one year of life. The severity of the disease is caused by the presence of multiple congenital anomalies. The most common cause of death is apnoea. The most widely discussed issue in the literature is the mother age effect. Most studies indicate that older women are at higher risks of developing trisomy 13 offsprings. However, there is scarce information regarding the effect of other key factors such as consanguinity and parity. Despite the fact that there are a number of trisomy 13 cases in Saudi Arabia, no study has yet been done. This research aims to study trisomy 13 in Saudi Arabia; no study has yet been done. This research aims to study trisomy 13 in Saudi patients to gather information regarding their prenatal, clinical and family history. Cytogenetic analysis will be performed on suspected persons using G-banding technique to determine their karyotypes and data will be derived from questionnaires and medical records
Publishing Year
:
1427 AH
2006 AD
Sponsor Name
:
Kin g Abdulaziz University
Sponsorship Year
:
1427 AH
2006 AD
Added Date
:
Tuesday, June 29, 2010
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
وفاء مكي نكلاس
Nichols, Wafa Makki
Investigator
Doctorate
Files
File Name
Type
Description
30926.docx
docx
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