INVESTIGATION OF MICRODELETIONS IN SYNDROMIC INTELLECTUAL DISABILITY BY MLPA IN IRANIAN POPULATION

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

LOGHMANI KHOUZANI HOURA; KARIMINEJAD ARIANA; ZAMANI GHOLAMREZA; GHALANDARY MARYAM; BOZORGMEHR BITA; AMIRSALARI SUSAN; MOJAHEDI FAEZEH; TONEKABONI SAYED HASSAN; KARIMINEJAD ROXANA; NAJMABADI HOSSEIN

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: ARCHIVES OF IRANIAN MEDICINE Year:2014 | Volume:17 | Issue:7 Page(s): 471-474

Download Full-Text

View:

417

Download:

294

Cites:

Information Journal Paper

Title

INVESTIGATION OF MICRODELETIONS IN SYNDROMIC INTELLECTUAL DISABILITY BY MLPA IN IRANIAN POPULATION

Author(s)

Keywords

INTELLECTUAL DISABILITY

IRANIAN POPULATION

MICRODELETION SYNDROMES

MULTIPLEX LIGATION

DEPENDENT PROBE AMPLIFICATION ASSAY

Abstract

BACKGROUND: Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in patients with ID. More recently, the MULTIPLEX LIGATION-dependent Probe Amplification (MLPA) method has been applied for detecting microdeletion/duplication in patients with dysmorphism and ID.METHODS: A total of 100 patients with dysmorphism and ID have been referred to us since 2011. All patients were first evaluated clinically and a number of these individuals had normal karyotypes. We investigated duplications and deletions for 21 different MICRODELETION SYNDROMES using MLPA kit (MRC-Holland).RESULTS: We were able to identify aberrations in 12 (12%) patients clinically ascertained as follows: 5 Williams syndromes, 3 Miller- Dieker syndromes, 1 Sotos syndrome, 1 Angelman Syndrome, 1 Di-George syndrome and one patient with an abnormal 4p chromosomal region.CONCLUSION: Our MLPA results indicate a high degree of concordance between the clinical data and the genotype. We suggest MLPA as the first screening method for children suffering from MR with normal karyotypes. In those cases where clinical findings were not compatible with the microdeletion syndrome identified by MLPA investigation, further studies such as FISH and aCGH were performed.

Cites

No record.

References

No record.

Cite

APA: Copy

LOGHMANI KHOUZANI, HOURA, KARIMINEJAD, ARIANA, ZAMANI, GHOLAMREZA, GHALANDARY, MARYAM, BOZORGMEHR, BITA, AMIRSALARI, SUSAN, MOJAHEDI, FAEZEH, TONEKABONI, SAYED HASSAN, KARIMINEJAD, ROXANA, & NAJMABADI, HOSSEIN. (2014). INVESTIGATION OF MICRODELETIONS IN SYNDROMIC INTELLECTUAL DISABILITY BY MLPA IN IRANIAN POPULATION. ARCHIVES OF IRANIAN MEDICINE, 17(7), 471-474. SID. https://sid.ir/paper/280994/en

Vancouver: Copy

LOGHMANI KHOUZANI HOURA, KARIMINEJAD ARIANA, ZAMANI GHOLAMREZA, GHALANDARY MARYAM, BOZORGMEHR BITA, AMIRSALARI SUSAN, MOJAHEDI FAEZEH, TONEKABONI SAYED HASSAN, KARIMINEJAD ROXANA, NAJMABADI HOSSEIN. INVESTIGATION OF MICRODELETIONS IN SYNDROMIC INTELLECTUAL DISABILITY BY MLPA IN IRANIAN POPULATION. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2014;17(7):471-474. Available from: https://sid.ir/paper/280994/en

IEEE: Copy

HOURA LOGHMANI KHOUZANI, ARIANA KARIMINEJAD, GHOLAMREZA ZAMANI, MARYAM GHALANDARY, BITA BOZORGMEHR, SUSAN AMIRSALARI, FAEZEH MOJAHEDI, SAYED HASSAN TONEKABONI, ROXANA KARIMINEJAD, and HOSSEIN NAJMABADI, “INVESTIGATION OF MICRODELETIONS IN SYNDROMIC INTELLECTUAL DISABILITY BY MLPA IN IRANIAN POPULATION,” ARCHIVES OF IRANIAN MEDICINE, vol. 17, no. 7, pp. 471–474, 2014, [Online]. Available: https://sid.ir/paper/280994/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops