Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. The purpose was to determine the results of subtelomeric sc...
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| Veröffentlicht in: | Iranian red crescent medical journal 2013-10, Vol.15 (10), p.e8221-e8221 |
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| creator | Behjati, Farkhondeh Ghasemi Firouzabadi, Saghar Sajedi, Firoozeh Kahrizi, Kimia Najafi, Mostafa Ebrahimizade Ghasemlou, Behruz Shafeghati, Yousef Behnia, Fatemeh Mohammadi Arya, Ali Reza Karimi, Hossein Hadipour, Fatemeh Hadipour, Zahra Jamali, Peyman Kariminejad, Roxana Darvish, Hossein Bahman, Ideh Bagherizadeh, Eiman Najmabadi, Hossein Vameghi, Roshanak |
| description | Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.
The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.
A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.
Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.
So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits. |
| doi_str_mv | 10.5812/ircmj.8221 |
| format | Article |
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The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.
A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.
Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.
So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.</description><identifier>ISSN: 2074-1804</identifier><identifier>EISSN: 2074-1812</identifier><identifier>DOI: 10.5812/ircmj.8221</identifier><identifier>PMID: 24693374</identifier><language>eng</language><publisher>Iran: Zamen Salamati Publishing</publisher><ispartof>Iranian red crescent medical journal, 2013-10, Vol.15 (10), p.e8221-e8221</ispartof><rights>Copyright Iranian Hospital Dubai Oct 2013</rights><rights>Copyright © 2013, Iranian Red Crescent Medical Journal; 2013</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c406t-67ab5daa60b75cb44960852acd93a078e4f4811f87f87becd7c1ff095fda557d3</citedby><cites>FETCH-LOGICAL-c406t-67ab5daa60b75cb44960852acd93a078e4f4811f87f87becd7c1ff095fda557d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950786/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950786/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24693374$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Behjati, Farkhondeh</creatorcontrib><creatorcontrib>Ghasemi Firouzabadi, Saghar</creatorcontrib><creatorcontrib>Sajedi, Firoozeh</creatorcontrib><creatorcontrib>Kahrizi, Kimia</creatorcontrib><creatorcontrib>Najafi, Mostafa</creatorcontrib><creatorcontrib>Ebrahimizade Ghasemlou, Behruz</creatorcontrib><creatorcontrib>Shafeghati, Yousef</creatorcontrib><creatorcontrib>Behnia, Fatemeh</creatorcontrib><creatorcontrib>Mohammadi Arya, Ali Reza</creatorcontrib><creatorcontrib>Karimi, Hossein</creatorcontrib><creatorcontrib>Hadipour, Fatemeh</creatorcontrib><creatorcontrib>Hadipour, Zahra</creatorcontrib><creatorcontrib>Jamali, Peyman</creatorcontrib><creatorcontrib>Kariminejad, Roxana</creatorcontrib><creatorcontrib>Darvish, Hossein</creatorcontrib><creatorcontrib>Bahman, Ideh</creatorcontrib><creatorcontrib>Bagherizadeh, Eiman</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Vameghi, Roshanak</creatorcontrib><title>Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation</title><title>Iranian red crescent medical journal</title><addtitle>Iran Red Crescent Med J</addtitle><description>Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.
The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.
A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.
Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.
So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.</description><issn>2074-1804</issn><issn>2074-1812</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkl2LEzEUhgdR3HX1xh8gAW9WoWsyk8zHjVDqV6HFort4GTKZTHtKJhmTjOgP9H95ul3rBwQSznnzvOfAm2VPGb0SNctfQdDD_qrOc3YvO89pxWcMy_dPb8rPskcx7ikVTZkXD7OznJdNUVT8PPu57IxL0INWCbwjvieLXfCDj34wZN46HwZlIYGJBBz5PLXJWGwF0OST2eKXSG4iuC1ZTzbBaM13soLtEfbGjMYd-GQTfIu4YbR_rC7Xq838Bbk2eufg62QOfEYpWQblQDmyQRn-jeQLpB1ZduBHlXbou8aqsmifVOhuWY-zB72y0Ty5uy-ym3dvrxcfZquP75eL-WqmOS3TrKxUKzqlStpWQrecNyWtRa501xSKVrXhPa8Z6-sKT2t0V2nW97QRfaeEqLriInt95I5TO5hO4yBBWTkGGFT4Ib0C-W_HwU5u_TdZNAL5JQIu7wDB48oxyQGiNtYqZ_wUJRMsRyfWMJQ-_0-691NwuJ5kvKzLSuSMourlUaWDjzGY_jQMo_KQDnmbDnlIB4qf_T3-Sfo7DsUvGWO6_g</recordid><startdate>20131001</startdate><enddate>20131001</enddate><creator>Behjati, Farkhondeh</creator><creator>Ghasemi Firouzabadi, Saghar</creator><creator>Sajedi, Firoozeh</creator><creator>Kahrizi, Kimia</creator><creator>Najafi, Mostafa</creator><creator>Ebrahimizade Ghasemlou, Behruz</creator><creator>Shafeghati, Yousef</creator><creator>Behnia, Fatemeh</creator><creator>Mohammadi Arya, Ali Reza</creator><creator>Karimi, Hossein</creator><creator>Hadipour, Fatemeh</creator><creator>Hadipour, Zahra</creator><creator>Jamali, Peyman</creator><creator>Kariminejad, Roxana</creator><creator>Darvish, Hossein</creator><creator>Bahman, Ideh</creator><creator>Bagherizadeh, Eiman</creator><creator>Najmabadi, Hossein</creator><creator>Vameghi, Roshanak</creator><general>Zamen Salamati Publishing</general><general>Kowsar</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20131001</creationdate><title>Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation</title><author>Behjati, Farkhondeh ; Ghasemi Firouzabadi, Saghar ; Sajedi, Firoozeh ; Kahrizi, Kimia ; Najafi, Mostafa ; Ebrahimizade Ghasemlou, Behruz ; Shafeghati, Yousef ; Behnia, Fatemeh ; Mohammadi Arya, Ali Reza ; Karimi, Hossein ; Hadipour, Fatemeh ; Hadipour, Zahra ; Jamali, Peyman ; Kariminejad, Roxana ; Darvish, Hossein ; Bahman, Ideh ; Bagherizadeh, Eiman ; Najmabadi, Hossein ; Vameghi, Roshanak</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c406t-67ab5daa60b75cb44960852acd93a078e4f4811f87f87becd7c1ff095fda557d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Behjati, Farkhondeh</creatorcontrib><creatorcontrib>Ghasemi Firouzabadi, Saghar</creatorcontrib><creatorcontrib>Sajedi, Firoozeh</creatorcontrib><creatorcontrib>Kahrizi, Kimia</creatorcontrib><creatorcontrib>Najafi, Mostafa</creatorcontrib><creatorcontrib>Ebrahimizade Ghasemlou, Behruz</creatorcontrib><creatorcontrib>Shafeghati, Yousef</creatorcontrib><creatorcontrib>Behnia, Fatemeh</creatorcontrib><creatorcontrib>Mohammadi Arya, Ali Reza</creatorcontrib><creatorcontrib>Karimi, Hossein</creatorcontrib><creatorcontrib>Hadipour, Fatemeh</creatorcontrib><creatorcontrib>Hadipour, Zahra</creatorcontrib><creatorcontrib>Jamali, Peyman</creatorcontrib><creatorcontrib>Kariminejad, Roxana</creatorcontrib><creatorcontrib>Darvish, Hossein</creatorcontrib><creatorcontrib>Bahman, Ideh</creatorcontrib><creatorcontrib>Bagherizadeh, Eiman</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Vameghi, Roshanak</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Middle East & Africa Database</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Iranian red crescent medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Behjati, Farkhondeh</au><au>Ghasemi Firouzabadi, Saghar</au><au>Sajedi, Firoozeh</au><au>Kahrizi, Kimia</au><au>Najafi, Mostafa</au><au>Ebrahimizade Ghasemlou, Behruz</au><au>Shafeghati, Yousef</au><au>Behnia, Fatemeh</au><au>Mohammadi Arya, Ali Reza</au><au>Karimi, Hossein</au><au>Hadipour, Fatemeh</au><au>Hadipour, Zahra</au><au>Jamali, Peyman</au><au>Kariminejad, Roxana</au><au>Darvish, Hossein</au><au>Bahman, Ideh</au><au>Bagherizadeh, Eiman</au><au>Najmabadi, Hossein</au><au>Vameghi, Roshanak</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation</atitle><jtitle>Iranian red crescent medical journal</jtitle><addtitle>Iran Red Crescent Med J</addtitle><date>2013-10-01</date><risdate>2013</risdate><volume>15</volume><issue>10</issue><spage>e8221</spage><epage>e8221</epage><pages>e8221-e8221</pages><issn>2074-1804</issn><eissn>2074-1812</eissn><abstract>Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.
The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.
A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.
Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.
So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.</abstract><cop>Iran</cop><pub>Zamen Salamati Publishing</pub><pmid>24693374</pmid><doi>10.5812/ircmj.8221</doi><oa>free_for_read</oa></addata></record> |
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| title | Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation |
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