Coexistence of autism and ring chromosome 22
Yükleniyor...
Tarih
2019
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Yüzüncü Yıl Üniversitesi Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The 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.
Açıklama
Anahtar Kelimeler
22q13, Autism, Ring chromosome 22
Kaynak
Eastern Journal of Medicine
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
24
Sayı
4
Künye
Sizer, E., Yüksel, T. ve Oral, D. (2019). Coexistence of autism and ring chromosome 22. Eastern Journal of Medicine, 24(4), 554-557.
