ARRAY COMPARATIVE GENOMIC HYBRIDIZATION

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KARIMINEJAD MOHAMMAD HASAN; BOZORGMEHR BITA; KARIMINEJAD ARIANA; NAJAFI KIMIYA; NAJAFI KIYA; MOSHTAGH AZADEH; KARIMINEJAD ROXANA

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2011 | Volume:9 | Issue:3 Page(s): 2470-2473

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Title

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION

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Keywords

COMPARATIVE GENOMIC HYBRIDIZATIONQ2

DEVELOPMENTAL DISABILITIESQ2

INTELLECTUAL DISABILITYQ2

AUTISTIC DISORDERQ2

CONGENITAL ABNORMALITIESQ2

Abstract

Chromosome microarray is being suggested and replacing karyotype as first tier diagnostic test for individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Chromosome microarray gives a diagnostic yield of 15-20% for genetic testing of individuals with DD/ID, ASD or MCA compared to 3% in karyotype (excluding Down syndrome and other recognizable chromosomal syndromes). We present the results of chromosome microarray performed on 110 individuals with DD/ID, ASD or MCA. From the 110 cases, 23 cases (20.9%) showed copy number variations, of which 13 were deletions, 5 were duplication and 5 were duplication and deletion. The limitations of chromosome microarray are for detection of balanced translocation and low-level mosaicism, but these chromosomal abnormalities are rare causes of abnormal phenotypes in this category of patients.

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APA: Copy

KARIMINEJAD, MOHAMMAD HASAN, BOZORGMEHR, BITA, KARIMINEJAD, ARIANA, NAJAFI, KIMIYA, NAJAFI, KIYA, MOSHTAGH, AZADEH, & KARIMINEJAD, ROXANA. (2011). ARRAY COMPARATIVE GENOMIC HYBRIDIZATION. GENETICS IN THE 3RD MILLENNIUM, 9(3), 2470-2473. SID. https://sid.ir/paper/117189/en

Vancouver: Copy

KARIMINEJAD MOHAMMAD HASAN, BOZORGMEHR BITA, KARIMINEJAD ARIANA, NAJAFI KIMIYA, NAJAFI KIYA, MOSHTAGH AZADEH, KARIMINEJAD ROXANA. ARRAY COMPARATIVE GENOMIC HYBRIDIZATION. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2011;9(3):2470-2473. Available from: https://sid.ir/paper/117189/en

IEEE: Copy

MOHAMMAD HASAN KARIMINEJAD, BITA BOZORGMEHR, ARIANA KARIMINEJAD, KIMIYA NAJAFI, KIYA NAJAFI, AZADEH MOSHTAGH, and ROXANA KARIMINEJAD, “ARRAY COMPARATIVE GENOMIC HYBRIDIZATION,” GENETICS IN THE 3RD MILLENNIUM, vol. 9, no. 3, pp. 2470–2473, 2011, [Online]. Available: https://sid.ir/paper/117189/en

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