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Pattern of chromosomal abnormalities among referral cases in a tertiary health care facility in Riyadh, Saudi Arabia
Other Title(s)
أنماط الخلل الكروموسومي في الحالات المحولة إلى مستوى الرعاية الصحية الثالث بالرياض-المملكة العربية السعودية
Joint Authors
Khalil, Mahmud Salah
Badr, Fuad M.
al-Saidi, Khalad
Source
Suez Canal University Medical Journal
Issue
Vol. 10, Issue 2 (31 Oct. 2007), pp.209-214, 6 p.
Publisher
Suez Canal University Faculty of Medicine
Publication Date
2007-10-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract AR
تعتبر الأمراض الوراثية محل اهتمام العالم خصوصا في البلدان التي يتم فيها الزواج الأقارب بصورة كبيرة لذا قد تم دراسة الكروموسومات للحالات المحولة إلى معمل الوراثة الخلوية في مدينة الملك فهد الطبية خلال عام (أغسطس 2005 حتى يوليو 2006) محاولة لدراسة المجتمع السعودي للوقوف على أكثر الأمراض الوراثية شيوعا في ذلك المجتمع.
الدراسة احتوت على 325 مريض قد تم تحويلهم إلى معمل الوراثة الخلوية.
وجد أن أكثر الأمراض الوراثية شيوعا هي تلك التي احتوت على اختلال في عدد الكروموسومات و من بين تلك المجموعة تلك التي احتوت على ثلاث كروموسومات من الكروموسوم رقم واحد و عشرون.
أيضا يمكن استخلاص أن بعض الأمراض تحتاج إلى مراجعة من قبل الممارسين قبل تحويلها إلى معمل الوراثة الخلوية.
تفتقر تلك الدراسة إلى العدد الكافي لتمثيل المجتمع السعودي.
Abstract EN
Objectives : To evaluate The cytogenesis findings among Saudi referred for suspected chromosomal anomalies that caused a variety of clinical disorders.
Secondly, lo estimate the frequency of chromosomal abnormalities in these patients and to compare our results with those reported in Saudi Arabia and elsewhere.
Thirdly, to evaluate if there overuse by some clinicians who refer cases for cytogenetic study before exhausting other less expensive and time-consuming tests that may lead to the final diagnosis.
Methods : Chromosomal analysis was performed on three hundred and twenty five cases referred to the Cytogenetic Laboratory between June 2005 and May 2006 at King Fahad Medical City, Riyadh, Saudi Arabia (SA).
Indications for referrals for exclusion of chromosomal abnormalities was multiple congenital anomalies, dimorphic features, unclassified mental rclardalion, developmental delay, primary amenorrhea, recurrent abortions and positive consanguinity.
Data were collected from from referred patterns' files.
Lymphocyte culture was carried out according to standard procedures.
Results : Various types of chromosomal anomalies were recorded in 39 (12%) of the studied group of those, 35 (89.7%) showed numerical chromosomal abnormalities in the form of trisomy 21 (28 ; 71,7 %); trisomy 18 (2 ; 5.1%), trisomy 13 (2; 5.1 %) ; trisomy X (1 ; 2.5%) and monosomy 21 (2; 5.1%).
The remaining cases (4) showed structural chromosomal abnormalities in the form of dimorphic features; 2 (5.1%); mental retardation ; 1 (2.5 %) and Turner syndrome ; 1 (2.5%).
Our results were compared to other studies results in SA and worldwide.
Trisomy 21 was the most frequent chromosomal abnormality in this study.
Conclusion : This study in addition to other similar studies in the same community figure out the chromosomal aberrations pattern in this area, ll was concluded that awareness of the chromosomal aberrations frequencies will help clinicians working in Saudi Arabia and surrounding countries to determine the priority of requesting cytogenetic study in individual cases.
American Psychological Association (APA)
Khalil, Mahmud Salah& Badr, Fuad M.& al-Saidi, Khalad. 2007. Pattern of chromosomal abnormalities among referral cases in a tertiary health care facility in Riyadh, Saudi Arabia. Suez Canal University Medical Journal،Vol. 10, no. 2, pp.209-214.
https://search.emarefa.net/detail/BIM-189481
Modern Language Association (MLA)
Khalil, Mahmud Salah…[et al.]. Pattern of chromosomal abnormalities among referral cases in a tertiary health care facility in Riyadh, Saudi Arabia. Suez Canal University Medical Journal Vol. 10, no. 2 (Oct. 2007), pp.209-214.
https://search.emarefa.net/detail/BIM-189481
American Medical Association (AMA)
Khalil, Mahmud Salah& Badr, Fuad M.& al-Saidi, Khalad. Pattern of chromosomal abnormalities among referral cases in a tertiary health care facility in Riyadh, Saudi Arabia. Suez Canal University Medical Journal. 2007. Vol. 10, no. 2, pp.209-214.
https://search.emarefa.net/detail/BIM-189481
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 214
Record ID
BIM-189481