The Evaluation of the Referral Reasons of Patients at a Tertiary Pediatric Genetic Center in Izmir, Turkey
Küçük Resim Yok
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Mary Ann Liebert Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Our study aimed to review and evaluate the referral reasons of patients at Department of Pediatric Genetics, Ege University, between 1998 and 2006. In total, 2342 patients were referred to the pediatrics outpatient clinic for dysmorphological examination and suspected genetic conditions. The files were evaluated retrospectively, and they were grouped into five categories. The subgroups included mental retardation (MR)-multiple congenital anomalies and isolated anomalies in 1472 (62.85%), syndromes that may be associated with cytogenetic abnormalities in 634 (27.07%), suspected single-gene disorders in 134 (5.72%), suspected microdeletion syndromes in 48 (2.05%), and other genetic conditions comprising complex multifactorial disorders and ambiguous genitalia in 54 (2.31%). These data have provided useful information on the frequency of different groups of genetic diseases, genetic causes of MR, and the feasibility of genetic services. In conclusion, genetic service should be encouraged among physicians and patients in addition to the diagnosis, prognosis, and disease management efforts.
Açıklama
Anahtar Kelimeler
Kaynak
Genetic Testing and Molecular Biomarkers
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
13
Sayı
2
