Coexistence of autism and ring chromosome 22

Basit Öğe Kaydı
dc.authorid0000-0002--0074-0602en_US
dc.contributor.authorSizer, Esra
dc.contributor.authorYüksel, Tuğba
dc.contributor.authorOral, Diclehan
dc.date.accessioned2024-03-04T06:24:47Z
dc.date.available2024-03-04T06:24:47Z
dc.date.issued2019en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk ve Ergen Ruh Sağlığı Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractThe incidence of ring chromosome 22, which was first described by Weber et al. in 1968, is not known yet. Phenotypic features such as craniofacial anomalies, growth and developmental retardation, hypotonia, mental retardation, delay in motor skills, and syndactyly in the 2nd and 3rd toes are observed in cases with ring chromosome 22. Ring chromosome 22 abnormality has rarely been reported in children diagnosed with autism spectrum disorder. Herein, we will disarss a six-year old boy having a karyotype of 46, XY, r (22) (p11.2q13), ish del (22qter) (MS607-) on cytogenetic examination who was diagnosed with autism spectrum disorder.en_US
dc.identifier.citationSizer, E., Yüksel, T. ve Oral, D. (2019). Coexistence of autism and ring chromosome 22. Eastern Journal of Medicine, 24(4), 554-557.en_US
dc.identifier.doi10.5505/ejm.2019.52714
dc.identifier.endpage557en_US
dc.identifier.issn1301-0883
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85074462383
dc.identifier.scopusqualityQ4
dc.identifier.startpage554en_US
dc.identifier.trdizinid332780
dc.identifier.urihttps://jag.journalagent.com/ejm/pdfs/EJM-52714-CASE_REPORT-SIZER.pdf
dc.identifier.urihttps://hdl.handle.net/11468/13472
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/332780
dc.identifier.volume24en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorSizer, Esra
dc.institutionauthorYüksel, Tuğba
dc.institutionauthorOral, Diclehan
dc.language.isoenen_US
dc.publisherYüzüncü Yıl Üniversitesi Tıp Fakültesien_US
dc.relation.ispartofEastern Journal of Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject22q13en_US
dc.subjectAutismen_US
dc.subjectRing chromosome 22en_US
dc.titleCoexistence of autism and ring chromosome 22en_US
dc.titleCoexistence of autism and ring chromosome 22
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
Coexistence of autism and ring chromosome 22.pdf
Boyut:
419.16 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Olgu Raporu
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Dahili Tıp Bilimleri Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu