The Turkish Journal of Pediatrics 2006 , Vol 48 , Num 2
Chromosomal abnormalities in 457 Turkish patients with MCA/MR
1Departments of Medical Biology and Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey
2Departments of Child Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey
Celep F, Sönmez FM, Karagüzel A. Chromosomal abnormalities in 457 Turkish patients with MCA/MR. Turk J Pediatr 2006; 48: 130-134.

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. Keywords : multiple congenital abnormalities, mental retardation, chromosomal abnormalities, FISH

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