title: Chromosomal abnormalities in 457 Turkish patients with MCA/MR.
abstract: The evaluation of multiple congenital abnormalities and/or mental retardation (MCA/MR) is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Chromosomal abnormalities account for a high percentage in the etiology of MCA/MR. In this study, frequency of chromosomal abnormalities was 4.81% of 457 patients. Chromosomal abnormalities and polymorphisms were detected in 65 (14.21%) (structural and numerical chromosomal abnormalities in 22 patients and polymorphisms in 43) of 457 MR and/or MCA patients. Our results show that chromosomal abnormalities contribute much to the causation of multiple malformations and/or MR. It is essential that fluorescence in situ hybridization (FISH) be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR and/or MCA.
authors.affiliation: Department of Medical Biology and Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Celep
authors.forename: Fatma Müjgan
authors.initials: FM
authors.lastname: Sönmez
authors.forename: Ahmet
authors.initials: A
authors.lastname: Karagüzel
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000235:genetics*; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D008607:Intellectual Disability / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D014421:Turkey / Q000453:epidemiology