عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
NATIONAL BIBLIOGRAPHY NUMBER
Country Code
IR
Number
۶۷۴پ
LANGUAGE OF THE ITEM
.Language of Text, Soundtrack etc
فارسی
COUNTRY OF PUBLICATION OR PRODUCTlON
Country of publication
IR
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
بررسی اختلالات کروموزومی و ساب تلومریک در ۴۰ کودک عقب مانده ذهنی یا دچار تاخیر تکامل با علت نامشخص با استفاده از روشهای سیوژنتیک و تکثیر پروبهای چندگانه وابسته به اتصال MLPA))
General Material Designation
[پایان‌نامه]
Parallel Title Proper
(MLPA) methods پMultiplex Ligation-dependent Probe Amplificationب Investigation of subtelomeric chromosomal aberrations in40 children with idiopathic mental retardation (MR) ordevelopmental delay ,using cytogenetics and
.PUBLICATION, DISTRIBUTION, ETC
Name of Publisher, Distributor, etc.
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
Date of Publication, Distribution, etc.
، ۱۳۹۰
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
۸۹ص.
NOTES PERTAINING TO PUBLICATION, DISTRIBUTION, ETC.
Text of Note
چاپی
DISSERTATION (THESIS) NOTE
Dissertation or thesis details and type of degree
کارشناسی ارشد
Discipline of degree
ژنتیک genetic
Body granting the degree
علوم بهزیستی و توانبخشی university of social welfare and rehabilitation))
SUMMARY OR ABSTRACT
Text of Note
Mental Retardation (MR) has heterogeneous etiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR and are responsible for 4-28 of all the mental retardation. Using Classic cytogenetics, chromosome abnormalities up to 4 Mbp can be detected. However for smaller abnormalities, molecular cytogenetics techniques such as fluorescent in situ hybridization (FISH) can be used.It has been shown that 5-7 of idiopathic MR have subtelomeric rearrangements using subtelomeric FISH technique. The subtelomere regions of chromosomes are gene rich and their abnormalities can be the main cause of idiopathic MR and multiple congenital abnormalities. Multiplex Ligationdependent Probe Amplification (MLPA) method detects genomic imbalances(deletions and duplications). It has a high sensitivity for the detection of subtelomeric imbalances, is rapid and much cheaper than FISH and hence applicable for a diagnostic set up.Various reports using MLPA for subtelomeric screening have reported 4-12 abnormalities among the idiopathic MR patients. In this project, using MLPA technique, the subtelomeric abnormalities were investigated in 40 patients with idiopathic MR with or without dysmorphism, with non consanguineous parents if more than one patient was affected. All the patients had normal karyotypes and were negative for fragile-X. The patients were screened with two MLPA kits, P036 and P070. The abnormal two patients (5 ), using both kits, had abnormal results, one with deletion of subtelomeric region of short arm of chromosome 3 and the other with deletion of centromeric region of long arm of chromosome 15. In order to determine the pathogenic and heritable status of the subtelomeric abnormalities , subtelomeic MLPA, carried out on the parents. For patient 30240 , both parents ,had normal results . For the other patient (29660) , father had normal results , but the patient's mother had the same abnormality as the patient ,while the mother was healthy. Therefore this abnormality may be polymorphic . Further family studies , and prenatal diagnosis will be recommended to the parents ,if the anomaly is found to be inherited .Genetic Counseling will be recommended to the affected families. Itis , however , necessary to carry out subtelomeric MLPA on more patients in order to give an accurate frequency for subtelomeric abnormalities in the Iranian population .Key Words: Idiopathic mental retardation, MLPA, normal karyotype , Subtelomeric abnormalities.
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PARALLEL TITLE PROPER
Parallel Title
(MLPA) methods پMultiplex Ligation-dependent Probe Amplificationب Investigation of subtelomeric chromosomal aberrations in40 children with idiopathic mental retardation (MR) ordevelopmental delay ,using cytogenetics and
PERSONAL NAME - PRIMARY RESPONSIBILITY
ابراهیمی زاده قاسملو، بهروز
Ebrahimizade ghasemlou, Behrouz
PERSONAL NAME - SECONDARY RESPONSIBILITY
وامقی، روشنک
نجم آبادی، حسین
بهجتی، فرخنده
ORIGINATING SOURCE
Country
ایران
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دانشگاه علوم توان بخشی و سلامت اجتماعی
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674..pdf
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6741.pdf
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6113205
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متن
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0
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۴۷۶پایا
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محل نگهداری: دانشگاه علوم بهزیستی و توانبخشی
نمایه‌سازی قبلی
چاپی-الکترونیکی
TF
1
a
Y
