Cytogenetic Findings in Children with Postnatal Growth Retardation
Background and Objective: Chromosomal abnormalities (CAs) might adversely affect fetal and postnatal growth. The aim of this study was to determine the prevalence and type of CAs in patients with postnatal growth retardation (PGR). Design and Methods: This was the largest study to date in children with PGR in Turkey, and presented the cytogenetic characteristics of 362 patients diagnosed with age range from 1 month to 18 years as having with PGR in a 17 years. The standard protocol for peripheral blood lymphocyte culture was followed by metaphase chromosome preparation and conventional analysis of G-banded chromosomes. Results: The CAs were detected in 8,0% of 362 patients. The median age at diagnosis was 6,3 years in children. The incidence of abnormal karyotype was higher in females than that of males (the female-male ratio=2.2). The 5,0% of these CAs were structural aberrations, and also numerical aberrations were 3,0%. Specifically, translocations are the most common karyotype (1,4%) among the patients; Inversions were detected in four patients (1,1%). Deletions was present in 2 (0,6%) patients. The ratio of fragilities and isochromosomes was 0,8% and 0,6% of all patients, respectively. Among numerical CAs, 11 patients (3,0%) had aneuploidies.
