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 TypeDr GradeEmail
وفاء مكي نكلاسNichols, Wafa MakkiInvestigatorDoctorate 

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