Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series.
Objective Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric group of pervasive developmental disorders mainly diagnosed through the complex behavioral phenotype. According to strong genetic involvement, detecting the chromosome regions and the key genes linked to autism can help to...
| Publicado en: | Iranian Journal of Child Neurology Vol. 16; no. 2; pp. 117 - 129 |
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| Autores principales: | , , , , , , , , , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Iranian Journal of Child Neurology
Spring2022
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=156309909&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 156309909 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 17354668 A91T jtl: Iranian Journal of Child Neurology issn: 17354668 maglogo: N pubinfo: dt: Spring2022 vid: 16 iid: 2 pid: 56766 pub: Iranian Journal of Child Neurology place: Tehran, <Blank> artinfo: ui: 156309909 156309909 156309909 10.22037/ijcn.v16i4.34843 156309909 ppf: 117 ppct: 12 formats: fmt: @attributes: type: P tig: atl: Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series. aug: au: GHASEMI, Mohammad Reza ZARGARI, Peyman SADEGHI, Hossein BAGHERI, Saman SADEGHI, Behnia MIRFAKHRAIE, Reza EKRAMI, Mahdis MOHAMMADI SARVALEH, Sepideh HASHEMI GORJI, Farzad RAZJOUYAN, Katayoon OMRANI, Davood KIM, Hyung goo MIRYOUNESI, Mohammad affil: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran sug: subj: Autism Spectrum Disorder Iran Cytogenetic Analysis Human Iran ab: Objective Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric group of pervasive developmental disorders mainly diagnosed through the complex behavioral phenotype. According to strong genetic involvement, detecting the chromosome regions and the key genes linked to autism can help to elucidate its etiology. The present study aimed to investigate the value of cytogenetic analysis in syndromic autism and find an association between autism and chromosome abnormalities. Materials & Methods Thirty-six autistic patients from 30 families were recruited, clinically diagnosed with the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5). The syndromic patients with additional clinical features (including development delay, attention deficit, hyperactivity disorder, seizure, and language and intellectual impairment) were selected due to elevating the detection rate. Cytogenetics analysis was performed using GTG banding on the patients' cultured fibroblasts. Moreover, array-comparative genomic hybridization (CGH) was also performed for patients with a de novo and novel variant. Results Karyotype analysis in 36 syndromic autistic patients detected chromosomal abnormalities in 2 (5.6%) families, including 46,XY,dup(15)(q11.1q11.2) and 46,XX,ins(7)(q11.1q21.3)dn. In the latter, array-CGH detected 3 abnormalities on chromosome 7, including deletion and insertion on both arms: 46,XX,del(7) (q21.11q21.3),dup(7)(p11.2p14.1p12.3)dn. Conclusion We reported a novel and de novo cytogenetic abnormality on chromosome 7 in an Iranian patient diagnosed with syndromic autism. However, the detection rate in syndromic autism was low, implying that it cannot be utilized as the only diagnostic procedure. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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